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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: 1-46652517-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46652517&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46652517,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_022745.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.588+64C>G",
"hgvs_p": null,
"transcript": "NM_001394565.1",
"protein_id": "NP_001381494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000574428.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394565.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.588+64C>G",
"hgvs_p": null,
"transcript": "ENST00000574428.6",
"protein_id": "ENSP00000459167.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394565.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574428.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.657+64C>G",
"hgvs_p": null,
"transcript": "ENST00000576409.5",
"protein_id": "ENSP00000460964.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576409.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.657+64C>G",
"hgvs_p": null,
"transcript": "NM_022745.6",
"protein_id": "NP_073582.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022745.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.615+64C>G",
"hgvs_p": null,
"transcript": "ENST00000870207.1",
"protein_id": "ENSP00000540266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.588+64C>G",
"hgvs_p": null,
"transcript": "ENST00000923241.1",
"protein_id": "ENSP00000593300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.588+64C>G",
"hgvs_p": null,
"transcript": "ENST00000870209.1",
"protein_id": "ENSP00000540268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.525+64C>G",
"hgvs_p": null,
"transcript": "ENST00000870203.1",
"protein_id": "ENSP00000540262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.588+64C>G",
"hgvs_p": null,
"transcript": "ENST00000923240.1",
"protein_id": "ENSP00000593299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923240.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.489+5610C>G",
"hgvs_p": null,
"transcript": "ENST00000870206.1",
"protein_id": "ENSP00000540265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": null,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.588+64C>G",
"hgvs_p": null,
"transcript": "ENST00000870205.1",
"protein_id": "ENSP00000540264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870205.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.474+64C>G",
"hgvs_p": null,
"transcript": "ENST00000870208.1",
"protein_id": "ENSP00000540267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": null,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.657+64C>G",
"hgvs_p": null,
"transcript": "NM_001042546.2",
"protein_id": "NP_001036011.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042546.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.657+64C>G",
"hgvs_p": null,
"transcript": "ENST00000329231.8",
"protein_id": "ENSP00000330685.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
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"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329231.8"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.376-7261C>G",
"hgvs_p": null,
"transcript": "ENST00000870204.1",
"protein_id": "ENSP00000540263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870204.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.537+64C>G",
"hgvs_p": null,
"transcript": "ENST00000870202.1",
"protein_id": "ENSP00000540261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870202.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.324+64C>G",
"hgvs_p": null,
"transcript": "NM_001243728.1",
"protein_id": "NP_001230657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.324+64C>G",
"hgvs_p": null,
"transcript": "ENST00000532925.5",
"protein_id": "ENSP00000435732.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532925.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.474+64C>G",
"hgvs_p": null,
"transcript": "ENST00000870210.1",
"protein_id": "ENSP00000540269.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870210.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.150+64C>G",
"hgvs_p": null,
"transcript": "ENST00000534216.5",
"protein_id": "ENSP00000432771.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534216.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.135+64C>G",
"hgvs_p": null,
"transcript": "NM_001256418.1",
"protein_id": "NP_001243347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": null,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
"gene_hgnc_id": 18803,
"hgvs_c": "c.330+64C>G",
"hgvs_p": null,
"transcript": "ENST00000526821.5",
"protein_id": "ENSP00000436690.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": null,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526821.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATPAF1",
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{
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],
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"gene_symbol": "ATPAF1",
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"biotype": "nonsense_mediated_decay",
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 7,
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"gene_symbol": "ATPAF1",
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"transcript": "ENST00000487193.1",
"protein_id": "ENSP00000433437.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487193.1"
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],
"gene_symbol": "ATPAF1",
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"dbsnp": "rs620431",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.173,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022745.6",
"gene_symbol": "ATPAF1",
"hgnc_id": 18803,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.657+64C>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}