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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: X-154508580-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154508580&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM3A",
"hgnc_id": 13749,
"hgvs_c": "c.211T>C",
"hgvs_p": "p.Tyr71His",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001282311.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.3367,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25550752878189087,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 230,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 629,
"cds_end": null,
"cds_length": 693,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_021806.4",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000447601.7",
"protein_coding": true,
"protein_id": "NP_068578.2",
"strand": false,
"transcript": "NM_021806.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 230,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 629,
"cds_end": null,
"cds_length": 693,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000447601.7",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021806.4",
"protein_coding": true,
"protein_id": "ENSP00000416146.2",
"strand": false,
"transcript": "ENST00000447601.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 260,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 629,
"cds_end": null,
"cds_length": 783,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858761.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528820.1",
"strand": false,
"transcript": "ENST00000858761.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 246,
"aa_ref": "Y",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 688,
"cds_end": null,
"cds_length": 741,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858759.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.217T>C",
"hgvs_p": "p.Tyr73His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528818.1",
"strand": false,
"transcript": "ENST00000858759.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 246,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 602,
"cds_end": null,
"cds_length": 741,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858762.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528821.1",
"strand": false,
"transcript": "ENST00000858762.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 244,
"aa_ref": "Y",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 727,
"cds_end": null,
"cds_length": 735,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282311.2",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.211T>C",
"hgvs_p": "p.Tyr71His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269240.1",
"strand": false,
"transcript": "NM_001282311.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 244,
"aa_ref": "Y",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 640,
"cds_end": null,
"cds_length": 735,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000322269.10",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.211T>C",
"hgvs_p": "p.Tyr71His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000320521.7",
"strand": false,
"transcript": "ENST00000322269.10",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 238,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 664,
"cds_end": null,
"cds_length": 717,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858758.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528817.1",
"strand": false,
"transcript": "ENST00000858758.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 237,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 532,
"cds_end": null,
"cds_length": 714,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363822.2",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350751.1",
"strand": false,
"transcript": "NM_001363822.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 237,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1359,
"cdna_start": 538,
"cds_end": null,
"cds_length": 714,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000369641.7",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358655.3",
"strand": false,
"transcript": "ENST00000369641.7",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 237,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 472,
"cds_end": null,
"cds_length": 714,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858755.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528814.1",
"strand": false,
"transcript": "ENST00000858755.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 237,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1648,
"cdna_start": 465,
"cds_end": null,
"cds_length": 714,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959364.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629423.1",
"strand": false,
"transcript": "ENST00000959364.1",
"transcript_support_level": null
},
{
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"aa_length": 237,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 251,
"cds_end": null,
"cds_length": 714,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959368.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629427.1",
"strand": false,
"transcript": "ENST00000959368.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 230,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 532,
"cds_end": null,
"cds_length": 693,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001171132.3",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164603.1",
"strand": false,
"transcript": "NM_001171132.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 230,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 473,
"cds_end": null,
"cds_length": 693,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282312.2",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269241.1",
"strand": false,
"transcript": "NM_001282312.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 230,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": 536,
"cds_end": null,
"cds_length": 693,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000359889.9",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352955.5",
"strand": false,
"transcript": "ENST00000359889.9",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 230,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": 357,
"cds_end": null,
"cds_length": 693,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000369643.5",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000358657.1",
"strand": false,
"transcript": "ENST00000369643.5",
"transcript_support_level": 2
},
{
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"aa_length": 230,
"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_start": 257,
"cds_end": null,
"cds_length": 693,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858757.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528816.1",
"strand": false,
"transcript": "ENST00000858757.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 230,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 371,
"cds_end": null,
"cds_length": 693,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959365.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629424.1",
"strand": false,
"transcript": "ENST00000959365.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 230,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 432,
"cds_end": null,
"cds_length": 693,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959366.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629425.1",
"strand": false,
"transcript": "ENST00000959366.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 230,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": 271,
"cds_end": null,
"cds_length": 693,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959367.1",
"gene_hgnc_id": 13749,
"gene_symbol": "FAM3A",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Tyr57His",
"intron_rank": null,
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