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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: 7-66951014-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66951014&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 66951014,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017994.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "NM_017994.5",
"protein_id": "NP_060464.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341567.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017994.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000341567.8",
"protein_id": "ENSP00000340668.4",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017994.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341567.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "n.597-2212C>T",
"hgvs_p": null,
"transcript": "ENST00000433271.6",
"protein_id": "ENSP00000405558.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000433271.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.761C>T",
"hgvs_p": "p.Thr254Ile",
"transcript": "ENST00000961464.1",
"protein_id": "ENSP00000631523.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 348,
"cds_start": 761,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961464.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885222.1",
"protein_id": "ENSP00000555281.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885222.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885223.1",
"protein_id": "ENSP00000555282.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885223.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885225.1",
"protein_id": "ENSP00000555284.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885225.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885226.1",
"protein_id": "ENSP00000555285.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885226.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885227.1",
"protein_id": "ENSP00000555286.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885227.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885228.1",
"protein_id": "ENSP00000555287.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885228.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885230.1",
"protein_id": "ENSP00000555289.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885230.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885231.1",
"protein_id": "ENSP00000555290.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885231.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885232.1",
"protein_id": "ENSP00000555291.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885232.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885233.1",
"protein_id": "ENSP00000555292.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885233.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885234.1",
"protein_id": "ENSP00000555293.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885234.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885235.1",
"protein_id": "ENSP00000555294.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885235.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885236.1",
"protein_id": "ENSP00000555295.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885236.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000885237.1",
"protein_id": "ENSP00000555296.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885237.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000926665.1",
"protein_id": "ENSP00000596724.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926665.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000926668.1",
"protein_id": "ENSP00000596727.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926668.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000926669.1",
"protein_id": "ENSP00000596728.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926669.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM248",
"gene_hgnc_id": 25476,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Ile",
"transcript": "ENST00000926670.1",
"protein_id": "ENSP00000596729.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 314,
"cds_start": 659,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"allele_count_reference_population": 0,
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_017994.5",
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"effects": [
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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
}