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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: 1-19683072-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19683072&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19683072,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_181719.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "NM_181719.7",
"protein_id": "NP_859070.3",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": "ENST00000294543.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181719.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000294543.11",
"protein_id": "ENSP00000294543.6",
"transcript_support_level": 1,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": "NM_181719.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294543.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1657+216A>G",
"hgvs_p": null,
"transcript": "ENST00000375127.5",
"protein_id": "ENSP00000364269.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375127.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "NM_001349112.3",
"protein_id": "NP_001336041.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349112.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "NM_001349113.3",
"protein_id": "NP_001336042.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349113.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "NM_001349114.3",
"protein_id": "NP_001336043.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349114.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866952.1",
"protein_id": "ENSP00000537011.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866952.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866953.1",
"protein_id": "ENSP00000537012.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2200,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866953.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866954.1",
"protein_id": "ENSP00000537013.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866954.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866955.1",
"protein_id": "ENSP00000537014.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866955.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866956.1",
"protein_id": "ENSP00000537015.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866956.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866957.1",
"protein_id": "ENSP00000537016.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866957.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866958.1",
"protein_id": "ENSP00000537017.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866958.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866959.1",
"protein_id": "ENSP00000537018.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866959.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866960.1",
"protein_id": "ENSP00000537019.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866960.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866961.1",
"protein_id": "ENSP00000537020.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866961.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866962.1",
"protein_id": "ENSP00000537021.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866962.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866963.1",
"protein_id": "ENSP00000537022.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866963.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866964.1",
"protein_id": "ENSP00000537023.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866964.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866965.1",
"protein_id": "ENSP00000537024.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866965.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866966.1",
"protein_id": "ENSP00000537025.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866966.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO4",
"gene_hgnc_id": 27393,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000866967.1",
"protein_id": "ENSP00000537026.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 634,
"cds_start": 1873,
"cds_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
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}
],
"message": null
}