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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: 14-100538259-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=100538259&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 100538259,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001385085.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Asp517Asn",
"transcript": "NM_001385089.1",
"protein_id": "NP_001372018.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 612,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000554140.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385089.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Asp517Asn",
"transcript": "ENST00000554140.3",
"protein_id": "ENSP00000451125.2",
"transcript_support_level": 5,
"aa_start": 517,
"aa_end": null,
"aa_length": 612,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385089.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554140.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Asp498Asn",
"transcript": "ENST00000355173.7",
"protein_id": "ENSP00000347301.2",
"transcript_support_level": 1,
"aa_start": 498,
"aa_end": null,
"aa_length": 593,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355173.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Asp498Asn",
"transcript": "ENST00000557378.6",
"protein_id": "ENSP00000450722.2",
"transcript_support_level": 1,
"aa_start": 498,
"aa_end": null,
"aa_length": 593,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557378.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.2149G>A",
"hgvs_p": "p.Asp717Asn",
"transcript": "ENST00000637716.2",
"protein_id": "ENSP00000490571.1",
"transcript_support_level": 5,
"aa_start": 717,
"aa_end": null,
"aa_length": 812,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637716.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1639G>A",
"hgvs_p": "p.Asp547Asn",
"transcript": "NM_001385085.1",
"protein_id": "NP_001372014.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 642,
"cds_start": 1639,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385085.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Asp541Asn",
"transcript": "NM_001385086.1",
"protein_id": "NP_001372015.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 636,
"cds_start": 1621,
"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_001385086.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Asp540Asn",
"transcript": "NM_001385087.1",
"protein_id": "NP_001372016.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 635,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385087.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1582G>A",
"hgvs_p": "p.Asp528Asn",
"transcript": "NM_001385088.1",
"protein_id": "NP_001372017.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 623,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385088.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1582G>A",
"hgvs_p": "p.Asp528Asn",
"transcript": "ENST00000637646.1",
"protein_id": "ENSP00000489826.1",
"transcript_support_level": 5,
"aa_start": 528,
"aa_end": null,
"aa_length": 623,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637646.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Asp511Asn",
"transcript": "NM_001385090.1",
"protein_id": "NP_001372019.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 606,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385090.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Asp511Asn",
"transcript": "ENST00000965912.1",
"protein_id": "ENSP00000635971.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 606,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965912.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1528G>A",
"hgvs_p": "p.Asp510Asn",
"transcript": "NM_001385091.1",
"protein_id": "NP_001372020.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 605,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385091.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Asp505Asn",
"transcript": "NM_001385092.1",
"protein_id": "NP_001372021.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 600,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385092.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Asp498Asn",
"transcript": "NM_001159531.2",
"protein_id": "NP_001153003.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 593,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159531.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Asp498Asn",
"transcript": "NM_001385082.1",
"protein_id": "NP_001372011.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 593,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385082.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Asp498Asn",
"transcript": "NM_001385083.1",
"protein_id": "NP_001372012.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 593,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385083.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Asp498Asn",
"transcript": "NM_001385084.1",
"protein_id": "NP_001372013.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 593,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385084.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Asp498Asn",
"transcript": "NM_020836.4",
"protein_id": "NP_065887.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 593,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020836.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Asp498Asn",
"transcript": "ENST00000553553.6",
"protein_id": "ENSP00000451397.2",
"transcript_support_level": 3,
"aa_start": 498,
"aa_end": null,
"aa_length": 593,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553553.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Asp498Asn",
"transcript": "ENST00000556188.6",
"protein_id": "ENSP00000452157.2",
"transcript_support_level": 3,
"aa_start": 498,
"aa_end": null,
"aa_length": 593,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556188.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Asp489Asn",
"transcript": "NM_001385093.1",
"protein_id": "NP_001372022.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 584,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
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{
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],
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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
}