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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: 3-159764809-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=159764809&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 159764809,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001197113.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Pro144Ser",
"transcript": "NM_014575.4",
"protein_id": "NP_055390.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 487,
"cds_start": 430,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000638749.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014575.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Pro144Ser",
"transcript": "ENST00000638749.2",
"protein_id": "ENSP00000491030.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 487,
"cds_start": 430,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014575.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638749.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCJ-SCHIP1",
"gene_hgnc_id": 38842,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Pro220Ser",
"transcript": "ENST00000485419.7",
"protein_id": "ENSP00000420182.1",
"transcript_support_level": 2,
"aa_start": 220,
"aa_end": null,
"aa_length": 563,
"cds_start": 658,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485419.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Pro144Ser",
"transcript": "ENST00000412423.8",
"protein_id": "ENSP00000400942.2",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 474,
"cds_start": 430,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412423.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"transcript": "ENST00000460298.3",
"protein_id": "ENSP00000417305.3",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 451,
"cds_start": 349,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460298.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCJ-SCHIP1",
"gene_hgnc_id": 38842,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Pro220Ser",
"transcript": "NM_001197113.2",
"protein_id": "NP_001184042.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 563,
"cds_start": 658,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197113.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCJ-SCHIP1",
"gene_hgnc_id": 38842,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Pro193Ser",
"transcript": "NM_001197114.2",
"protein_id": "NP_001184043.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 536,
"cds_start": 577,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197114.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCJ-SCHIP1",
"gene_hgnc_id": 38842,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Pro193Ser",
"transcript": "NM_001414414.1",
"protein_id": "NP_001401343.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 536,
"cds_start": 577,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414414.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCJ-SCHIP1",
"gene_hgnc_id": 38842,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Pro193Ser",
"transcript": "ENST00000476809.7",
"protein_id": "ENSP00000418692.1",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 536,
"cds_start": 577,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476809.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Pro141Ser",
"transcript": "NM_001414415.1",
"protein_id": "NP_001401344.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 484,
"cds_start": 421,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414415.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Pro144Ser",
"transcript": "NM_001197107.2",
"protein_id": "NP_001184036.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 474,
"cds_start": 430,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197107.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Pro126Ser",
"transcript": "NM_001414416.1",
"protein_id": "NP_001401345.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 469,
"cds_start": 376,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414416.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Pro124Ser",
"transcript": "NM_001414417.1",
"protein_id": "NP_001401346.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 467,
"cds_start": 370,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414417.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"transcript": "NM_001394282.1",
"protein_id": "NP_001381211.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 460,
"cds_start": 349,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394282.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"transcript": "NM_001394283.1",
"protein_id": "NP_001381212.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 460,
"cds_start": 349,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394283.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"transcript": "NM_001394284.1",
"protein_id": "NP_001381213.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 460,
"cds_start": 349,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394284.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"transcript": "NM_001394285.1",
"protein_id": "NP_001381214.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 460,
"cds_start": 349,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394285.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"transcript": "NM_001394286.1",
"protein_id": "NP_001381215.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 460,
"cds_start": 349,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394286.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"transcript": "NM_001414418.1",
"protein_id": "NP_001401347.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 460,
"cds_start": 349,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414418.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"transcript": "NM_001414419.1",
"protein_id": "NP_001401348.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 460,
"cds_start": 349,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414419.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"transcript": "ENST00000689690.1",
"protein_id": "ENSP00000508586.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 460,
"cds_start": 349,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689690.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCHIP1",
"gene_hgnc_id": 15678,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"transcript": "NM_001394287.1",
"protein_id": "NP_001381216.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 447,
"cds_start": 349,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394287.1"
},
{
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{
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],
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{
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],
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],
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],
"clinvar_disease": "not specified",
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"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
}