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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: 16-8768230-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8768230&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 8768230,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001386615.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_020686.6",
"protein_id": "NP_065737.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": "ENST00000268251.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020686.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "ENST00000268251.13",
"protein_id": "ENSP00000268251.8",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": "NM_020686.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268251.13"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "ENST00000569156.5",
"protein_id": "ENSP00000454963.1",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 515,
"cds_start": 641,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569156.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "n.*381T>C",
"hgvs_p": null,
"transcript": "ENST00000566590.5",
"protein_id": "ENSP00000455198.1",
"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": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566590.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "n.*381T>C",
"hgvs_p": null,
"transcript": "ENST00000566590.5",
"protein_id": "ENSP00000455198.1",
"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": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566590.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Met246Thr",
"transcript": "NM_001386615.1",
"protein_id": "NP_001373544.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 532,
"cds_start": 737,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386615.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_001386616.1",
"protein_id": "NP_001373545.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 515,
"cds_start": 641,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386616.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.686T>C",
"hgvs_p": "p.Met229Thr",
"transcript": "ENST00000567812.5",
"protein_id": "ENSP00000456330.1",
"transcript_support_level": 2,
"aa_start": 229,
"aa_end": null,
"aa_length": 515,
"cds_start": 686,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567812.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_000663.5",
"protein_id": "NP_000654.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000663.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_001127448.2",
"protein_id": "NP_001120920.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127448.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_001386600.1",
"protein_id": "NP_001373529.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 5463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386600.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_001386601.1",
"protein_id": "NP_001373530.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386601.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_001386602.1",
"protein_id": "NP_001373531.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386602.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_001386603.1",
"protein_id": "NP_001373532.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386603.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_001386604.1",
"protein_id": "NP_001373533.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386604.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "ENST00000396600.6",
"protein_id": "ENSP00000379845.2",
"transcript_support_level": 5,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396600.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "ENST00000425191.6",
"protein_id": "ENSP00000411916.2",
"transcript_support_level": 2,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425191.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "ENST00000909342.1",
"protein_id": "ENSP00000579401.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909342.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "ENST00000909343.1",
"protein_id": "ENSP00000579402.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 500,
"cds_start": 641,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909343.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_001386605.1",
"protein_id": "NP_001373534.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 487,
"cds_start": 641,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 4740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386605.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Met193Thr",
"transcript": "NM_001386606.1",
"protein_id": "NP_001373535.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 479,
"cds_start": 578,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386606.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Met193Thr",
"transcript": "NM_001386607.1",
"protein_id": "NP_001373536.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 479,
"cds_start": 578,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386607.1"
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{
"score": -18,
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"pathogenic_score": 2,
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"BP6_Very_Strong",
"BS1",
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"verdict": "Benign",
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"inheritance_mode": "AR",
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],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6",
"phenotype_combined": "not specified|Gamma-aminobutyric acid transaminase deficiency|not provided|ABAT-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}