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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: 7-142957921-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=142957921&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 142957921,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355265.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "NM_000420.3",
"protein_id": "NP_000411.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 732,
"cds_start": 578,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "ENST00000355265.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "ENST00000355265.7",
"protein_id": "ENSP00000347409.2",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 732,
"cds_start": 578,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "NM_000420.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Thr205Met",
"transcript": "XM_005249993.2",
"protein_id": "XP_005250050.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 744,
"cds_start": 614,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met",
"transcript": "XM_047420357.1",
"protein_id": "XP_047276313.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 695,
"cds_start": 578,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "n.*430C>T",
"hgvs_p": null,
"transcript": "ENST00000467543.6",
"protein_id": "ENSP00000420011.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "n.696C>T",
"hgvs_p": null,
"transcript": "ENST00000479768.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "n.177C>T",
"hgvs_p": null,
"transcript": "ENST00000494148.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "n.*430C>T",
"hgvs_p": null,
"transcript": "ENST00000467543.6",
"protein_id": "ENSP00000420011.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.525+383C>T",
"hgvs_p": null,
"transcript": "ENST00000476829.5",
"protein_id": "ENSP00000419889.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"dbsnp": "rs8176058",
"frequency_reference_population": 0.035650425,
"hom_count_reference_population": 1186,
"allele_count_reference_population": 57541,
"gnomad_exomes_af": 0.0366486,
"gnomad_genomes_af": 0.0260658,
"gnomad_exomes_ac": 53573,
"gnomad_genomes_ac": 3968,
"gnomad_exomes_homalt": 1116,
"gnomad_genomes_homalt": 70,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.013251543045043945,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.218,
"revel_prediction": "Benign",
"alphamissense_score": 0.1182,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.999,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000355265.7",
"gene_symbol": "KEL",
"hgnc_id": 6308,
"effects": [
"missense_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Met"
}
],
"clinvar_disease": "KELL K/k BLOOD GROUP POLYMORPHISM,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|KELL K/k BLOOD GROUP POLYMORPHISM",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}