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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: 19-47260810-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47260810&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 47260810,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015603.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "NM_015603.3",
"protein_id": "NP_056418.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 531,
"cds_start": 433,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": "ENST00000221922.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015603.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "ENST00000221922.11",
"protein_id": "ENSP00000221922.5",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 531,
"cds_start": 433,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": "NM_015603.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221922.11"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "ENST00000643617.1",
"protein_id": "ENSP00000494410.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 587,
"cds_start": 433,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643617.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "ENST00000851059.1",
"protein_id": "ENSP00000521127.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 575,
"cds_start": 433,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851059.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "ENST00000925674.1",
"protein_id": "ENSP00000595733.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 531,
"cds_start": 433,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925674.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "ENST00000925675.1",
"protein_id": "ENSP00000595734.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 530,
"cds_start": 433,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925675.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.406G>C",
"hgvs_p": "p.Asp136His",
"transcript": "ENST00000878859.1",
"protein_id": "ENSP00000548918.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 522,
"cds_start": 406,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878859.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.406G>C",
"hgvs_p": "p.Asp136His",
"transcript": "ENST00000957309.1",
"protein_id": "ENSP00000627368.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 522,
"cds_start": 406,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957309.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "ENST00000878860.1",
"protein_id": "ENSP00000548919.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 521,
"cds_start": 433,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878860.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.328G>C",
"hgvs_p": "p.Asp110His",
"transcript": "ENST00000925672.1",
"protein_id": "ENSP00000595731.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 496,
"cds_start": 328,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925672.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "ENST00000925673.1",
"protein_id": "ENSP00000595732.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 445,
"cds_start": 433,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925673.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "XM_047438580.1",
"protein_id": "XP_047294536.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 587,
"cds_start": 433,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438580.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "XM_047438581.1",
"protein_id": "XP_047294537.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 587,
"cds_start": 433,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438581.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "XM_047438582.1",
"protein_id": "XP_047294538.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 587,
"cds_start": 433,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438582.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "XM_047438583.1",
"protein_id": "XP_047294539.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 575,
"cds_start": 433,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438583.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "XM_017026578.2",
"protein_id": "XP_016882067.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 531,
"cds_start": 433,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026578.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "XM_047438584.1",
"protein_id": "XP_047294540.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 531,
"cds_start": 433,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438584.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "XM_047438585.1",
"protein_id": "XP_047294541.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 505,
"cds_start": 433,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438585.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.121G>C",
"hgvs_p": "p.Asp41His",
"transcript": "XM_047438586.1",
"protein_id": "XP_047294542.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 483,
"cds_start": 121,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298666",
"gene_hgnc_id": null,
"hgvs_c": "n.191C>G",
"hgvs_p": null,
"transcript": "ENST00000757162.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000757162.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.*48G>C",
"hgvs_p": null,
"transcript": "ENST00000599398.5",
"protein_id": "ENSP00000469717.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599398.5"
}
],
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"dbsnp": "rs201974732",
"frequency_reference_population": 0.0000013689273,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136893,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20364513993263245,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.2543,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.33,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015603.3",
"gene_symbol": "CCDC9",
"hgnc_id": 24560,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000757162.1",
"gene_symbol": "ENSG00000298666",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.191C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}