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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: 12-71137977-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=71137977&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 71137977,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004616.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "NM_004616.3",
"protein_id": "NP_004607.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000247829.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004616.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000247829.8",
"protein_id": "ENSP00000247829.3",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004616.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000247829.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000393330.6",
"protein_id": "ENSP00000377003.2",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393330.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000546561.2",
"protein_id": "ENSP00000447160.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546561.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "NM_001369760.1",
"protein_id": "NP_001356689.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369760.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000861089.1",
"protein_id": "ENSP00000531148.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861089.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000861090.1",
"protein_id": "ENSP00000531149.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861090.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000861091.1",
"protein_id": "ENSP00000531150.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861091.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000861093.1",
"protein_id": "ENSP00000531152.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861093.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000861094.1",
"protein_id": "ENSP00000531153.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861094.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000861097.1",
"protein_id": "ENSP00000531156.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861097.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000861100.1",
"protein_id": "ENSP00000531159.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861100.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000861102.1",
"protein_id": "ENSP00000531161.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861102.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000963071.1",
"protein_id": "ENSP00000633130.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 237,
"cds_start": 420,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963071.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.384A>C",
"hgvs_p": "p.Glu128Asp",
"transcript": "ENST00000861098.1",
"protein_id": "ENSP00000531157.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 225,
"cds_start": 384,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861098.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.357A>C",
"hgvs_p": "p.Glu119Asp",
"transcript": "ENST00000861096.1",
"protein_id": "ENSP00000531155.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 216,
"cds_start": 357,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861096.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.345A>C",
"hgvs_p": "p.Glu115Asp",
"transcript": "ENST00000861103.1",
"protein_id": "ENSP00000531162.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 212,
"cds_start": 345,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861103.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000861099.1",
"protein_id": "ENSP00000531158.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 209,
"cds_start": 420,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861099.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.306A>C",
"hgvs_p": "p.Glu102Asp",
"transcript": "ENST00000861092.1",
"protein_id": "ENSP00000531151.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 199,
"cds_start": 306,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861092.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.306A>C",
"hgvs_p": "p.Glu102Asp",
"transcript": "ENST00000861101.1",
"protein_id": "ENSP00000531160.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 199,
"cds_start": 306,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861101.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "ENST00000861095.1",
"protein_id": "ENSP00000531154.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 193,
"cds_start": 420,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861095.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"hgvs_c": "n.284A>C",
"hgvs_p": null,
"transcript": "ENST00000552128.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000552128.2"
}
],
"gene_symbol": "TSPAN8",
"gene_hgnc_id": 11855,
"dbsnp": "rs774511407",
"frequency_reference_population": 0.000015492904,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000130012,
"gnomad_genomes_af": 0.000039413,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024615079164505005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.1115,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.371,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004616.3",
"gene_symbol": "TSPAN8",
"hgnc_id": 11855,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Glu140Asp"
}
],
"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
}