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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: 19-36010614-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36010614&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36010614,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032878.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "NM_032878.5",
"protein_id": "NP_116267.4",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000378875.8",
"protein_id": "ENSP00000368152.4",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000252984.11",
"protein_id": "ENSP00000252984.6",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "n.680G>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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "n.*99G>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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "n.*99G>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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "NM_001297701.2",
"protein_id": "NP_001284630.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "NM_001386055.1",
"protein_id": "NP_001372984.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000897810.1",
"protein_id": "ENSP00000567869.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "ENST00000897810.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000897811.1",
"protein_id": "ENSP00000567870.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "ENST00000897811.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000897812.1",
"protein_id": "ENSP00000567871.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000897813.1",
"protein_id": "ENSP00000567872.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000897815.1",
"protein_id": "ENSP00000567874.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000897817.1",
"protein_id": "ENSP00000567876.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "ENST00000897817.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000956212.1",
"protein_id": "ENSP00000626271.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "ENST00000956212.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000956213.1",
"protein_id": "ENSP00000626272.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Asp133Asn",
"transcript": "ENST00000937861.1",
"protein_id": "ENSP00000607920.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 235,
"cds_start": 397,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Asp113Asn",
"transcript": "ENST00000897814.1",
"protein_id": "ENSP00000567873.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 215,
"cds_start": 337,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Asp92Asn",
"transcript": "ENST00000937860.1",
"protein_id": "ENSP00000607919.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 194,
"cds_start": 274,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Asp67Asn",
"transcript": "NM_001386056.1",
"protein_id": "NP_001372985.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 169,
"cds_start": 199,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"transcript": "ENST00000897816.1",
"protein_id": "ENSP00000567875.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 167,
"cds_start": 193,
"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": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH6",
"gene_hgnc_id": 28243,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Gly151Glu",
"transcript": "NM_198867.1",
"protein_id": "NP_942567.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 161,
"cds_start": 452,
"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": "NM_198867.1"
},
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{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
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"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000473572.2",
"gene_symbol": "ENSG00000248101",
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"effects": [
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],
"inheritance_mode": "",
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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
}