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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: 9-123132919-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=123132919&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 123132919,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018387.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "NM_018387.5",
"protein_id": "NP_060857.2",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348403.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018387.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000348403.10",
"protein_id": "ENSP00000321347.7",
"transcript_support_level": 1,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018387.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348403.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"transcript": "ENST00000360998.3",
"protein_id": "ENSP00000354271.3",
"transcript_support_level": 1,
"aa_start": 594,
"aa_end": null,
"aa_length": 658,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360998.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "n.*1600G>A",
"hgvs_p": null,
"transcript": "ENST00000407982.6",
"protein_id": "ENSP00000384292.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000407982.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "n.*1600G>A",
"hgvs_p": null,
"transcript": "ENST00000407982.6",
"protein_id": "ENSP00000384292.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000407982.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "NM_001376106.1",
"protein_id": "NP_001363035.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376106.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "NM_001376107.1",
"protein_id": "NP_001363036.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376107.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000447404.6",
"protein_id": "ENSP00000415968.2",
"transcript_support_level": 2,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447404.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000878276.1",
"protein_id": "ENSP00000548335.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878276.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000878277.1",
"protein_id": "ENSP00000548336.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878277.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000878278.1",
"protein_id": "ENSP00000548337.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878278.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000878280.1",
"protein_id": "ENSP00000548339.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878280.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000932652.1",
"protein_id": "ENSP00000602711.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932652.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000932653.1",
"protein_id": "ENSP00000602712.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932653.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000932655.1",
"protein_id": "ENSP00000602714.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932655.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000932658.1",
"protein_id": "ENSP00000602717.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932658.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000932659.1",
"protein_id": "ENSP00000602718.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 672,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932659.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1808G>A",
"hgvs_p": "p.Arg603Gln",
"transcript": "ENST00000878275.1",
"protein_id": "ENSP00000548334.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 667,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878275.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1808G>A",
"hgvs_p": "p.Arg603Gln",
"transcript": "ENST00000878279.1",
"protein_id": "ENSP00000548338.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 667,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878279.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"transcript": "NM_001171137.2",
"protein_id": "NP_001164608.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 658,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171137.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "ENST00000932654.1",
"protein_id": "ENSP00000602713.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 657,
"cds_start": 1823,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932654.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRBP",
"gene_hgnc_id": 16462,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"transcript": "NM_001376109.1",
"protein_id": "NP_001363038.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 648,
"cds_start": 1823,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376109.1"
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}