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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: 6-34240791-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=34240791&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 34240791,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145899.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "NM_145899.3",
"protein_id": "NP_665906.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311487.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145899.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000311487.9",
"protein_id": "ENSP00000308227.4",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145899.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311487.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000447654.5",
"protein_id": "ENSP00000399888.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447654.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000347617.10",
"protein_id": "ENSP00000288245.9",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 96,
"cds_start": 11,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347617.10"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000374116.3",
"protein_id": "ENSP00000363230.3",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 96,
"cds_start": 11,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374116.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000401473.7",
"protein_id": "ENSP00000385693.2",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 96,
"cds_start": 11,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401473.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "n.169C>T",
"hgvs_p": null,
"transcript": "ENST00000478214.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000478214.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000924528.1",
"protein_id": "ENSP00000594587.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 114,
"cds_start": 11,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924528.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "NM_001319078.2",
"protein_id": "NP_001306007.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319078.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "NM_001319079.2",
"protein_id": "NP_001306008.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319079.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "NM_001319081.2",
"protein_id": "NP_001306010.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319081.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "NM_001319082.2",
"protein_id": "NP_001306011.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319082.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "NM_145901.3",
"protein_id": "NP_665908.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145901.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000873179.1",
"protein_id": "ENSP00000543238.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873179.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000873181.1",
"protein_id": "ENSP00000543240.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873181.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000873184.1",
"protein_id": "ENSP00000543243.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873184.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000873186.1",
"protein_id": "ENSP00000543245.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873186.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000873187.1",
"protein_id": "ENSP00000543246.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873187.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000873189.1",
"protein_id": "ENSP00000543248.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873189.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000873190.1",
"protein_id": "ENSP00000543249.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873190.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000873191.1",
"protein_id": "ENSP00000543250.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873191.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGA1",
"gene_hgnc_id": 5010,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000873192.1",
"protein_id": "ENSP00000543251.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 11,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873192.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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{
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{
"score": 1,
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}