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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: 8-100704309-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=100704309&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 100704309,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002568.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "NM_002568.4",
"protein_id": "NP_002559.2",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318607.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002568.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000318607.10",
"protein_id": "ENSP00000313007.5",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002568.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318607.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1756C>T",
"hgvs_p": "p.Pro586Ser",
"transcript": "ENST00000610907.2",
"protein_id": "ENSP00000478108.2",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 588,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610907.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1993C>T",
"hgvs_p": "p.Pro665Ser",
"transcript": "ENST00000900770.1",
"protein_id": "ENSP00000570829.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 667,
"cds_start": 1993,
"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": "ENST00000900770.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "NM_001438282.1",
"protein_id": "NP_001425211.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438282.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000520142.2",
"protein_id": "ENSP00000430012.2",
"transcript_support_level": 3,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520142.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000520804.2",
"protein_id": "ENSP00000428749.2",
"transcript_support_level": 2,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520804.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000521865.6",
"protein_id": "ENSP00000429119.2",
"transcript_support_level": 2,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521865.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000522658.6",
"protein_id": "ENSP00000428840.2",
"transcript_support_level": 2,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522658.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000522720.2",
"protein_id": "ENSP00000429790.2",
"transcript_support_level": 4,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522720.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000523555.6",
"protein_id": "ENSP00000429892.2",
"transcript_support_level": 3,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523555.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000900764.1",
"protein_id": "ENSP00000570823.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900764.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000900773.1",
"protein_id": "ENSP00000570832.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900773.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000938879.1",
"protein_id": "ENSP00000608938.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938879.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000938880.1",
"protein_id": "ENSP00000608939.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938880.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000951436.1",
"protein_id": "ENSP00000621495.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951436.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Pro634Ser",
"transcript": "ENST00000951437.1",
"protein_id": "ENSP00000621496.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 636,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951437.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1894C>T",
"hgvs_p": "p.Pro632Ser",
"transcript": "ENST00000900766.1",
"protein_id": "ENSP00000570825.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 634,
"cds_start": 1894,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900766.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1891C>T",
"hgvs_p": "p.Pro631Ser",
"transcript": "ENST00000677140.1",
"protein_id": "ENSP00000503044.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 633,
"cds_start": 1891,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677140.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1891C>T",
"hgvs_p": "p.Pro631Ser",
"transcript": "ENST00000938882.1",
"protein_id": "ENSP00000608941.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 633,
"cds_start": 1891,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938882.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1867C>T",
"hgvs_p": "p.Pro623Ser",
"transcript": "ENST00000900771.1",
"protein_id": "ENSP00000570830.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 625,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900771.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Pro607Ser",
"transcript": "ENST00000900765.1",
"protein_id": "ENSP00000570824.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 609,
"cds_start": 1819,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900765.1"
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}