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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: 2-70663606-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=70663606&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 70663606,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001617.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Ser667Asn",
"transcript": "NM_001617.4",
"protein_id": "NP_001608.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 726,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264436.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001617.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Ser667Asn",
"transcript": "ENST00000264436.9",
"protein_id": "ENSP00000264436.3",
"transcript_support_level": 1,
"aa_start": 667,
"aa_end": null,
"aa_length": 726,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001617.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264436.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Ser667Asn",
"transcript": "ENST00000407644.6",
"protein_id": "ENSP00000384677.2",
"transcript_support_level": 1,
"aa_start": 667,
"aa_end": null,
"aa_length": 726,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407644.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.*154G>A",
"hgvs_p": null,
"transcript": "ENST00000355733.7",
"protein_id": "ENSP00000347972.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": null,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355733.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.2090G>A",
"hgvs_p": "p.Ser697Asn",
"transcript": "ENST00000912692.1",
"protein_id": "ENSP00000582751.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 756,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912692.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Ser684Asn",
"transcript": "ENST00000912688.1",
"protein_id": "ENSP00000582747.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 743,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912688.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Ser667Asn",
"transcript": "NM_001185054.2",
"protein_id": "NP_001171983.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 726,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185054.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Ser667Asn",
"transcript": "ENST00000900356.1",
"protein_id": "ENSP00000570415.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 726,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900356.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Ser667Asn",
"transcript": "ENST00000912689.1",
"protein_id": "ENSP00000582748.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 726,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912689.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Ser667Asn",
"transcript": "ENST00000912690.1",
"protein_id": "ENSP00000582749.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 726,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912690.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"transcript": "ENST00000912686.1",
"protein_id": "ENSP00000582745.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 725,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912686.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Ser608Asn",
"transcript": "ENST00000912687.1",
"protein_id": "ENSP00000582746.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 667,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912687.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Ser515Asn",
"transcript": "ENST00000912691.1",
"protein_id": "ENSP00000582750.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 574,
"cds_start": 1544,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912691.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Ser667Asn",
"transcript": "XM_011532502.3",
"protein_id": "XP_011530804.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 726,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532502.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.*154G>A",
"hgvs_p": null,
"transcript": "NM_017488.4",
"protein_id": "NP_059522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": null,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017488.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "n.2000G>A",
"hgvs_p": null,
"transcript": "ENST00000403045.6",
"protein_id": "ENSP00000384303.2",
"transcript_support_level": 2,
"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": "ENST00000403045.6"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "n.367G>A",
"hgvs_p": null,
"transcript": "ENST00000481675.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000481675.1"
}
],
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"dbsnp": "rs147439886",
"frequency_reference_population": 0.00014249762,
"hom_count_reference_population": 0,
"allele_count_reference_population": 230,
"gnomad_exomes_af": 0.000145701,
"gnomad_genomes_af": 0.000111719,
"gnomad_exomes_ac": 213,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1339818835258484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.0887,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.7,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001617.4",
"gene_symbol": "ADD2",
"hgnc_id": 244,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Ser667Asn"
}
],
"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
}