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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: 9-19528120-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19528120&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC24A2",
"hgnc_id": 10976,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Pro500Ser",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_020344.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105375988",
"hgnc_id": null,
"hgvs_c": "n.413-25986G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "XR_929510.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.6536,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7846317291259766,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "P",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10990,
"cdna_start": 1804,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1498,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_020344.4",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Pro500Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341998.7",
"protein_coding": true,
"protein_id": "NP_065077.1",
"strand": false,
"transcript": "NM_020344.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "P",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10990,
"cdna_start": 1804,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1498,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000341998.7",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Pro500Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020344.4",
"protein_coding": true,
"protein_id": "ENSP00000344801.1",
"strand": false,
"transcript": "ENST00000341998.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 644,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10899,
"cdna_start": 1710,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000286344.4",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Pro483Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000286344.3",
"strand": false,
"transcript": "ENST00000286344.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "P",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11343,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1498,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001375850.1",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Pro500Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362779.1",
"strand": false,
"transcript": "NM_001375850.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "P",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": 2002,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1498,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903169.1",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Pro500Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573228.1",
"strand": false,
"transcript": "ENST00000903169.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "P",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 2045,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1498,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903171.1",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Pro500Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573230.1",
"strand": false,
"transcript": "ENST00000903171.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 644,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10939,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001193288.3",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Pro483Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180217.1",
"strand": false,
"transcript": "NM_001193288.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 644,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11292,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001375851.1",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Pro483Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362780.1",
"strand": false,
"transcript": "NM_001375851.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 644,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": 2188,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000903166.1",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Pro483Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573225.1",
"strand": false,
"transcript": "ENST00000903166.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 631,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6756,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000903165.1",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Pro470Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573224.1",
"strand": false,
"transcript": "ENST00000903165.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 631,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2725,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000903167.1",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Pro470Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573226.1",
"strand": false,
"transcript": "ENST00000903167.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 631,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3058,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000903168.1",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Pro470Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573227.1",
"strand": false,
"transcript": "ENST00000903168.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 609,
"aa_ref": "P",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000903170.1",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Pro448Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573229.1",
"strand": false,
"transcript": "ENST00000903170.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "P",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11591,
"cdna_start": 2405,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1498,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017014592.2",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Pro500Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870081.1",
"strand": false,
"transcript": "XM_017014592.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 601,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": null,
"cds_end": null,
"cds_length": 1806,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911594.1",
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"hgvs_c": "c.1390-7060C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581653.1",
"strand": false,
"transcript": "ENST00000911594.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007061430.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC105375988",
"hgvs_c": "n.557-25986G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007061430.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007061431.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC105375988",
"hgvs_c": "n.693-25986G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007061431.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_929510.4",
"gene_hgnc_id": null,
"gene_symbol": "LOC105375988",
"hgvs_c": "n.413-25986G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_929510.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2132659865",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10976,
"gene_symbol": "SLC24A2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.202,
"pos": 19528120,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.539,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020344.4"
}
]
}