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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: 19-10631494-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10631494&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10631494,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000335757.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Gln154Arg",
"transcript": "NM_020428.4",
"protein_id": "NP_065161.3",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 706,
"cds_start": 461,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": "ENST00000335757.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Gln154Arg",
"transcript": "ENST00000335757.10",
"protein_id": "ENSP00000336888.4",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 706,
"cds_start": 461,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": "NM_020428.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Gln152Arg",
"transcript": "ENST00000407327.8",
"protein_id": "ENSP00000385135.3",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 704,
"cds_start": 455,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.370A>G",
"hgvs_p": null,
"transcript": "ENST00000588465.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Gln154Arg",
"transcript": "NM_001363611.2",
"protein_id": "NP_001350540.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 711,
"cds_start": 461,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Gln154Arg",
"transcript": "ENST00000586078.5",
"protein_id": "ENSP00000466664.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 711,
"cds_start": 461,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Gln152Arg",
"transcript": "NM_001145056.2",
"protein_id": "NP_001138528.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 704,
"cds_start": 455,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Gln99Arg",
"transcript": "ENST00000590382.5",
"protein_id": "ENSP00000468691.1",
"transcript_support_level": 4,
"aa_start": 99,
"aa_end": null,
"aa_length": 169,
"cds_start": 296,
"cds_end": null,
"cds_length": 512,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Gln101Arg",
"transcript": "ENST00000588688.5",
"protein_id": "ENSP00000467552.1",
"transcript_support_level": 4,
"aa_start": 101,
"aa_end": null,
"aa_length": 145,
"cds_start": 302,
"cds_end": null,
"cds_length": 439,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Gln154Arg",
"transcript": "XM_047439112.1",
"protein_id": "XP_047295068.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 711,
"cds_start": 461,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Gln152Arg",
"transcript": "XM_047439113.1",
"protein_id": "XP_047295069.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 709,
"cds_start": 455,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.*258A>G",
"hgvs_p": null,
"transcript": "ENST00000592293.5",
"protein_id": "ENSP00000466612.1",
"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": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.-89A>G",
"hgvs_p": null,
"transcript": "ENST00000590857.5",
"protein_id": "ENSP00000465547.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 9,
"cds_start": -4,
"cds_end": null,
"cds_length": 32,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.*258A>G",
"hgvs_p": null,
"transcript": "ENST00000592293.5",
"protein_id": "ENSP00000466612.1",
"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": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.246-3262A>G",
"hgvs_p": null,
"transcript": "ENST00000588409.1",
"protein_id": "ENSP00000468070.1",
"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": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.-212A>G",
"hgvs_p": null,
"transcript": "ENST00000588393.5",
"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": 1154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"dbsnp": "rs2288904",
"frequency_reference_population": 0.787597,
"hom_count_reference_population": 502435,
"allele_count_reference_population": 1271054,
"gnomad_exomes_af": 0.783413,
"gnomad_genomes_af": 0.827805,
"gnomad_exomes_ac": 1145130,
"gnomad_genomes_ac": 125924,
"gnomad_exomes_homalt": 449929,
"gnomad_genomes_homalt": 52506,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 5.468901917993207e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.0521,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.829,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000335757.10",
"gene_symbol": "SLC44A2",
"hgnc_id": 17292,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Gln154Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}