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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: 12-57476616-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57476616&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57476616,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032496.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "NM_032496.4",
"protein_id": "NP_115885.2",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 731,
"cds_start": 999,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "ENST00000393791.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "ENST00000393791.8",
"protein_id": "ENSP00000377380.3",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 731,
"cds_start": 999,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "NM_032496.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "ENST00000393797.7",
"protein_id": "ENSP00000377386.3",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 750,
"cds_start": 999,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Lys149Asn",
"transcript": "ENST00000430041.6",
"protein_id": "ENSP00000397950.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 547,
"cds_start": 447,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "NM_001319850.2",
"protein_id": "NP_001306779.2",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 750,
"cds_start": 999,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "ENST00000550288.6",
"protein_id": "ENSP00000473445.2",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 657,
"cds_start": 999,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "NM_001080157.2",
"protein_id": "NP_001073626.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 640,
"cds_start": 999,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "ENST00000424809.6",
"protein_id": "ENSP00000394307.2",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 640,
"cds_start": 999,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Lys149Asn",
"transcript": "NM_001319852.2",
"protein_id": "NP_001306781.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 566,
"cds_start": 447,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Lys149Asn",
"transcript": "NM_001080156.3",
"protein_id": "NP_001073625.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 547,
"cds_start": 447,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Lys149Asn",
"transcript": "NM_001367426.1",
"protein_id": "NP_001354355.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 547,
"cds_start": 447,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Lys149Asn",
"transcript": "NM_001367422.1",
"protein_id": "NP_001354351.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 545,
"cds_start": 447,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.354G>T",
"hgvs_p": "p.Lys118Asn",
"transcript": "NM_001367423.1",
"protein_id": "NP_001354352.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Lys149Asn",
"transcript": "NM_001367424.1",
"protein_id": "NP_001354353.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 456,
"cds_start": 447,
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"cdna_start": 544,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.354G>T",
"hgvs_p": "p.Lys118Asn",
"transcript": "NM_001367425.1",
"protein_id": "NP_001354354.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 425,
"cds_start": 354,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.9G>T",
"hgvs_p": "p.Lys3Asn",
"transcript": "NM_001319851.2",
"protein_id": "NP_001306780.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 420,
"cds_start": 9,
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"cdna_start": 767,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Lys149Asn",
"transcript": "ENST00000548139.5",
"protein_id": "ENSP00000449829.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 295,
"cds_start": 447,
"cds_end": null,
"cds_length": 890,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.354G>T",
"hgvs_p": "p.Lys118Asn",
"transcript": "ENST00000552604.5",
"protein_id": "ENSP00000450256.1",
"transcript_support_level": 4,
"aa_start": 118,
"aa_end": null,
"aa_length": 151,
"cds_start": 354,
"cds_end": null,
"cds_length": 458,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1143G>T",
"hgvs_p": "p.Lys381Asn",
"transcript": "XM_047429329.1",
"protein_id": "XP_047285285.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 798,
"cds_start": 1143,
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"cdna_start": 1346,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "XM_047429330.1",
"protein_id": "XP_047285286.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 750,
"cds_start": 999,
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"cdna_start": 1143,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "XM_047429331.1",
"protein_id": "XP_047285287.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 750,
"cds_start": 999,
"cds_end": null,
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"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "XM_011538656.3",
"protein_id": "XP_011536958.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 731,
"cds_start": 999,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.999G>T",
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{
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"verdict": "Uncertain_significance",
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}