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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: 19-10631374-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10631374&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10631374,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001363611.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Lys144Gln",
"transcript": "NM_020428.4",
"protein_id": "NP_065161.3",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 706,
"cds_start": 430,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335757.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020428.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Lys144Gln",
"transcript": "ENST00000335757.10",
"protein_id": "ENSP00000336888.4",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 706,
"cds_start": 430,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020428.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335757.10"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.424A>C",
"hgvs_p": "p.Lys142Gln",
"transcript": "ENST00000407327.8",
"protein_id": "ENSP00000385135.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 704,
"cds_start": 424,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407327.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.339A>C",
"hgvs_p": null,
"transcript": "ENST00000588465.5",
"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": "retained_intron",
"feature": "ENST00000588465.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.457A>C",
"hgvs_p": "p.Lys153Gln",
"transcript": "ENST00000857522.1",
"protein_id": "ENSP00000527581.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 715,
"cds_start": 457,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857522.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Lys144Gln",
"transcript": "NM_001363611.2",
"protein_id": "NP_001350540.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 711,
"cds_start": 430,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363611.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Lys144Gln",
"transcript": "ENST00000586078.5",
"protein_id": "ENSP00000466664.1",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 711,
"cds_start": 430,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586078.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.424A>C",
"hgvs_p": "p.Lys142Gln",
"transcript": "NM_001145056.2",
"protein_id": "NP_001138528.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 704,
"cds_start": 424,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145056.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Lys144Gln",
"transcript": "ENST00000857524.1",
"protein_id": "ENSP00000527583.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 704,
"cds_start": 430,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857524.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Lys144Gln",
"transcript": "ENST00000946363.1",
"protein_id": "ENSP00000616422.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 703,
"cds_start": 430,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946363.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Lys144Gln",
"transcript": "ENST00000857523.1",
"protein_id": "ENSP00000527582.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 698,
"cds_start": 430,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857523.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.385A>C",
"hgvs_p": "p.Lys129Gln",
"transcript": "ENST00000857521.1",
"protein_id": "ENSP00000527580.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 691,
"cds_start": 385,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857521.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Lys144Gln",
"transcript": "ENST00000857525.1",
"protein_id": "ENSP00000527584.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 689,
"cds_start": 430,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857525.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.265A>C",
"hgvs_p": "p.Lys89Gln",
"transcript": "ENST00000590382.5",
"protein_id": "ENSP00000468691.1",
"transcript_support_level": 4,
"aa_start": 89,
"aa_end": null,
"aa_length": 169,
"cds_start": 265,
"cds_end": null,
"cds_length": 512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590382.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.271A>C",
"hgvs_p": "p.Lys91Gln",
"transcript": "ENST00000588688.5",
"protein_id": "ENSP00000467552.1",
"transcript_support_level": 4,
"aa_start": 91,
"aa_end": null,
"aa_length": 145,
"cds_start": 271,
"cds_end": null,
"cds_length": 439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588688.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Lys144Gln",
"transcript": "XM_047439112.1",
"protein_id": "XP_047295068.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 711,
"cds_start": 430,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439112.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.424A>C",
"hgvs_p": "p.Lys142Gln",
"transcript": "XM_047439113.1",
"protein_id": "XP_047295069.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 709,
"cds_start": 424,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439113.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "c.-120A>C",
"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": null,
"cds_end": null,
"cds_length": 32,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590857.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.*227A>C",
"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": 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": "ENST00000592293.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"hgvs_c": "n.*227A>C",
"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": 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": "ENST00000592293.5"
},
{
"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.245+3370A>C",
"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": 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": "ENST00000588409.1"
}
],
"gene_symbol": "SLC44A2",
"gene_hgnc_id": 17292,
"dbsnp": "rs776783598",
"frequency_reference_population": 0.000016108386,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000164172,
"gnomad_genomes_af": 0.0000131422,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.044421374797821045,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.063,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.125,
"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": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001363611.2",
"gene_symbol": "SLC44A2",
"hgnc_id": 17292,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.430A>C",
"hgvs_p": "p.Lys144Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}