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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: 7-41690528-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=41690528&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 41690528,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002192.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "NM_002192.4",
"protein_id": "NP_002183.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242208.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002192.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "ENST00000242208.5",
"protein_id": "ENSP00000242208.4",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002192.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242208.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "ENST00000442711.1",
"protein_id": "ENSP00000397197.1",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "n.1391A>G",
"hgvs_p": null,
"transcript": "ENST00000464515.1",
"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": "ENST00000464515.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "ENST00000638023.1",
"protein_id": "ENSP00000490646.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638023.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "ENST00000867823.1",
"protein_id": "ENSP00000537882.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867823.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "ENST00000916727.1",
"protein_id": "ENSP00000586786.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916727.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "ENST00000947876.1",
"protein_id": "ENSP00000617935.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947876.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "ENST00000947878.1",
"protein_id": "ENSP00000617937.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947878.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "ENST00000947879.1",
"protein_id": "ENSP00000617938.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947879.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "XM_017012174.2",
"protein_id": "XP_016867663.2",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012174.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala",
"transcript": "XM_047420335.1",
"protein_id": "XP_047276291.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 426,
"cds_start": 403,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420335.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"hgvs_c": "n.52+14756A>G",
"hgvs_p": null,
"transcript": "ENST00000416150.1",
"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": "ENST00000416150.1"
}
],
"gene_symbol": "INHBA",
"gene_hgnc_id": 6066,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29166388511657715,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0856,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.618,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002192.4",
"gene_symbol": "INHBA",
"hgnc_id": 6066,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Thr135Ala"
}
],
"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
}