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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: 16-16016602-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16016602&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCC1",
"hgnc_id": 51,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_004996.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_score": -3,
"allele_count_reference_population": 37,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1085,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "16",
"clinvar_classification": "not provided",
"clinvar_disease": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.785372257232666,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6504,
"cdna_start": 732,
"cds_end": null,
"cds_length": 4596,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004996.4",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399410.8",
"protein_coding": true,
"protein_id": "NP_004987.2",
"strand": true,
"transcript": "NM_004996.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6504,
"cdna_start": 732,
"cds_end": null,
"cds_length": 4596,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000399410.8",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004996.4",
"protein_coding": true,
"protein_id": "ENSP00000382342.3",
"strand": true,
"transcript": "ENST00000399410.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6387,
"cdna_start": 771,
"cds_end": null,
"cds_length": 4419,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000572882.3",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461615.2",
"strand": true,
"transcript": "ENST00000572882.3",
"transcript_support_level": 1
},
{
"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": 2616,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000574224.2",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "n.671C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000574224.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1583,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6649,
"cdna_start": 725,
"cds_end": null,
"cds_length": 4752,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914156.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584215.1",
"strand": true,
"transcript": "ENST00000914156.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6594,
"cdna_start": 771,
"cds_end": null,
"cds_length": 4626,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000399408.7",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382340.4",
"strand": true,
"transcript": "ENST00000399408.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1527,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6498,
"cdna_start": 736,
"cds_end": null,
"cds_length": 4584,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914151.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584210.1",
"strand": true,
"transcript": "ENST00000914151.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1485,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6420,
"cdna_start": 639,
"cds_end": null,
"cds_length": 4458,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914141.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584200.1",
"strand": true,
"transcript": "ENST00000914141.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1482,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 732,
"cds_end": null,
"cds_length": 4449,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019902.2",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_063957.2",
"strand": true,
"transcript": "NM_019902.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1482,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 769,
"cds_end": null,
"cds_length": 4449,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914140.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584199.1",
"strand": true,
"transcript": "ENST00000914140.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6336,
"cdna_start": 732,
"cds_end": null,
"cds_length": 4428,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019898.3",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_063953.2",
"strand": true,
"transcript": "NM_019898.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6379,
"cdna_start": 754,
"cds_end": null,
"cds_length": 4428,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914143.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584202.1",
"strand": true,
"transcript": "ENST00000914143.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6327,
"cdna_start": 732,
"cds_end": null,
"cds_length": 4419,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019862.3",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_063915.2",
"strand": true,
"transcript": "NM_019862.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6309,
"cdna_start": 732,
"cds_end": null,
"cds_length": 4401,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438755.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425684.1",
"strand": true,
"transcript": "NM_001438755.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6322,
"cdna_start": 736,
"cds_end": null,
"cds_length": 4401,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914148.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584207.1",
"strand": true,
"transcript": "ENST00000914148.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1436,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6218,
"cdna_start": 598,
"cds_end": null,
"cds_length": 4311,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914153.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584212.1",
"strand": true,
"transcript": "ENST00000914153.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6226,
"cdna_start": 627,
"cds_end": null,
"cds_length": 4290,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958974.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629033.1",
"strand": true,
"transcript": "ENST00000958974.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1426,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6239,
"cdna_start": 787,
"cds_end": null,
"cds_length": 4281,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000958971.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629030.1",
"strand": true,
"transcript": "ENST00000958971.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6200,
"cdna_start": 758,
"cds_end": null,
"cds_length": 4272,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914147.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584206.1",
"strand": true,
"transcript": "ENST00000914147.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1418,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6166,
"cdna_start": 731,
"cds_end": null,
"cds_length": 4257,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914152.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584211.1",
"strand": true,
"transcript": "ENST00000914152.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1416,
"aa_ref": "S",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6159,
"cdna_start": 732,
"cds_end": null,
"cds_length": 4251,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019899.3",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ser199Leu",
"intron_rank": null,
"intron_rank_end": null,
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