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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: 17-37038989-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=37038989&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "AATF",
"hgnc_id": 19235,
"hgvs_c": "c.1619+7304A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_012138.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000277579",
"hgnc_id": null,
"hgvs_c": "n.178-4030A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000615419.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 41818,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6700000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 560,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": null,
"cds_end": null,
"cds_length": 1683,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012138.4",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1619+7304A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000619387.5",
"protein_coding": true,
"protein_id": "NP_036270.1",
"strand": true,
"transcript": "NM_012138.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 560,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": null,
"cds_end": null,
"cds_length": 1683,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000619387.5",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1619+7304A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012138.4",
"protein_coding": true,
"protein_id": "ENSP00000477848.1",
"strand": true,
"transcript": "ENST00000619387.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 562,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": null,
"cds_end": null,
"cds_length": 1689,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905217.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1625+7304A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575276.1",
"strand": true,
"transcript": "ENST00000905217.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 559,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": null,
"cds_end": null,
"cds_length": 1680,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953116.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1616+7304A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623175.1",
"strand": true,
"transcript": "ENST00000953116.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": null,
"cds_end": null,
"cds_length": 1650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937261.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1586+7304A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607320.1",
"strand": true,
"transcript": "ENST00000937261.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 540,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": null,
"cds_end": null,
"cds_length": 1623,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679997.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1623+7300A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505070.1",
"strand": true,
"transcript": "ENST00000679997.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 536,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": null,
"cds_end": null,
"cds_length": 1611,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411094.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1548-17612A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398023.1",
"strand": true,
"transcript": "NM_001411094.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 536,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": null,
"cds_end": null,
"cds_length": 1611,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680340.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1548-17612A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506264.1",
"strand": true,
"transcript": "ENST00000680340.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 533,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": null,
"cds_end": null,
"cds_length": 1602,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905215.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1538+7304A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575274.1",
"strand": true,
"transcript": "ENST00000905215.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 532,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": null,
"cds_end": null,
"cds_length": 1599,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905218.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1535+7304A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575277.1",
"strand": true,
"transcript": "ENST00000905218.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 514,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": null,
"cds_end": null,
"cds_length": 1545,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616434.2",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1481+7304A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477881.2",
"strand": true,
"transcript": "ENST00000616434.2",
"transcript_support_level": 3
},
{
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"aa_length": 509,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": null,
"cds_end": null,
"cds_length": 1530,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000905216.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1467-17612A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575275.1",
"strand": true,
"transcript": "ENST00000905216.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937263.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1208+7304A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607322.1",
"strand": true,
"transcript": "ENST00000937263.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": null,
"cds_end": null,
"cds_length": 1194,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000679881.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1130+7304A>G",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504972.1",
"strand": true,
"transcript": "ENST00000679881.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681062.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1130+7304A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506608.1",
"strand": true,
"transcript": "ENST00000681062.1",
"transcript_support_level": null
},
{
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"aa_length": 377,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": null,
"cds_end": null,
"cds_length": 1134,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937262.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1070+7304A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607321.1",
"strand": true,
"transcript": "ENST00000937262.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000680782.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1059-17612A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000506681.1",
"strand": true,
"transcript": "ENST00000680782.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937264.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.1016+7304A>G",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000607323.1",
"strand": true,
"transcript": "ENST00000937264.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000953117.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "c.878+7304A>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623176.1",
"strand": true,
"transcript": "ENST00000953117.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 411,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000615419.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000277579",
"hgvs_c": "n.178-4030A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000615419.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616392.1",
"gene_hgnc_id": 19235,
"gene_symbol": "AATF",
"hgvs_c": "n.204-17612A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
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