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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-36014181-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36014181&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36014181,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_032878.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-32G>A",
"hgvs_p": null,
"transcript": "NM_032878.5",
"protein_id": "NP_116267.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378875.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032878.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-32G>A",
"hgvs_p": null,
"transcript": "ENST00000378875.8",
"protein_id": "ENSP00000368152.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032878.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378875.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "ENST00000252984.11",
"protein_id": "ENSP00000252984.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252984.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-32G>A",
"hgvs_p": null,
"transcript": "NM_032878.5",
"protein_id": "NP_116267.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378875.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032878.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-32G>A",
"hgvs_p": null,
"transcript": "ENST00000378875.8",
"protein_id": "ENSP00000368152.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032878.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378875.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "ENST00000252984.11",
"protein_id": "ENSP00000252984.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252984.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "n.33G>A",
"hgvs_p": null,
"transcript": "ENST00000392183.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000392183.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "n.33G>A",
"hgvs_p": null,
"transcript": "ENST00000466196.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000466196.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "n.26G>A",
"hgvs_p": null,
"transcript": "ENST00000490986.5",
"protein_id": "ENSP00000435496.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490986.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "NM_001297701.2",
"protein_id": "NP_001284630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297701.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-693G>A",
"hgvs_p": null,
"transcript": "NM_001386055.1",
"protein_id": "NP_001372984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386055.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-693G>A",
"hgvs_p": null,
"transcript": "ENST00000897812.1",
"protein_id": "ENSP00000567871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-83G>A",
"hgvs_p": null,
"transcript": "ENST00000897813.1",
"protein_id": "ENSP00000567872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897813.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-84G>A",
"hgvs_p": null,
"transcript": "ENST00000897815.1",
"protein_id": "ENSP00000567874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897815.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-62G>A",
"hgvs_p": null,
"transcript": "ENST00000956213.1",
"protein_id": "ENSP00000626272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-32G>A",
"hgvs_p": null,
"transcript": "ENST00000937861.1",
"protein_id": "ENSP00000607920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-32G>A",
"hgvs_p": null,
"transcript": "ENST00000897814.1",
"protein_id": "ENSP00000567873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897814.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "ENST00000937860.1",
"protein_id": "ENSP00000607919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937860.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-271G>A",
"hgvs_p": null,
"transcript": "NM_001386056.1",
"protein_id": "NP_001372985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-32G>A",
"hgvs_p": null,
"transcript": "ENST00000897816.1",
"protein_id": "ENSP00000567875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897816.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-32G>A",
"hgvs_p": null,
"transcript": "ENST00000937862.1",
"protein_id": "ENSP00000607921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "ENST00000485128.5",
"protein_id": "ENSP00000436742.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": null,
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"canonical": false,
"protein_coding": false,
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{
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},
{
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"feature": "ENST00000490483.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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{
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],
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{
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],
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"feature": "ENST00000590666.5"
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{
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],
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"gene_symbol": "ALKBH6",
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"feature": "ENST00000592353.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "ALKBH6",
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"hgvs_c": "c.-784G>A",
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"transcript": "ENST00000897817.1",
"protein_id": "ENSP00000567876.1",
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"biotype": "protein_coding",
"feature": "ENST00000897817.1"
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],
"gene_symbol": "ALKBH6",
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"dbsnp": "rs747905484",
"frequency_reference_population": 0.000004962256,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000342461,
"gnomad_genomes_af": 0.0000197176,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2941353917121887,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0919,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.314,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032878.5",
"gene_symbol": "ALKBH6",
"hgnc_id": 28243,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-32G>A",
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},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000473572.2",
"gene_symbol": "ENSG00000248101",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.55G>A",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}