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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: 17-46297705-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46297705&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46297705,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014834.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "NM_014834.4",
"protein_id": "NP_055649.4",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1700,
"cds_start": 2572,
"cds_end": null,
"cds_length": 5103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320254.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014834.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "ENST00000320254.5",
"protein_id": "ENSP00000326324.5",
"transcript_support_level": 1,
"aa_start": 858,
"aa_end": null,
"aa_length": 1700,
"cds_start": 2572,
"cds_end": null,
"cds_length": 5103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014834.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320254.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "ENST00000393465.7",
"protein_id": "ENSP00000377108.2",
"transcript_support_level": 5,
"aa_start": 858,
"aa_end": null,
"aa_length": 1635,
"cds_start": 2572,
"cds_end": null,
"cds_length": 4908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393465.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "XM_047437196.1",
"protein_id": "XP_047293152.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1665,
"cds_start": 2572,
"cds_end": null,
"cds_length": 4998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437196.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "XM_047437197.1",
"protein_id": "XP_047293153.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1651,
"cds_start": 2572,
"cds_end": null,
"cds_length": 4956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437197.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "XM_047437198.1",
"protein_id": "XP_047293154.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1649,
"cds_start": 2572,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437198.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2290C>T",
"hgvs_p": "p.Pro764Ser",
"transcript": "XM_047437200.1",
"protein_id": "XP_047293156.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 1606,
"cds_start": 2290,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437200.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "XM_047437199.1",
"protein_id": "XP_047293155.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1600,
"cds_start": 2572,
"cds_end": null,
"cds_length": 4803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437199.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "XM_047437201.1",
"protein_id": "XP_047293157.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1576,
"cds_start": 2572,
"cds_end": null,
"cds_length": 4731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437201.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "XM_047437202.1",
"protein_id": "XP_047293158.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437202.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "XM_047437203.1",
"protein_id": "XP_047293159.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 969,
"cds_start": 2572,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437203.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "XM_047437204.1",
"protein_id": "XP_047293160.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 967,
"cds_start": 2572,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437204.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.-277-2089C>T",
"hgvs_p": null,
"transcript": "ENST00000496930.5",
"protein_id": "ENSP00000437021.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496930.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.*21+1821G>A",
"hgvs_p": null,
"transcript": "NM_001103154.2",
"protein_id": "NP_001096624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001103154.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.*21+1821G>A",
"hgvs_p": null,
"transcript": "NM_001352769.1",
"protein_id": "NP_001339698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352769.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.*21+1821G>A",
"hgvs_p": null,
"transcript": "ENST00000570618.6",
"protein_id": "ENSP00000459151.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570618.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.*21+1821G>A",
"hgvs_p": null,
"transcript": "ENST00000656849.1",
"protein_id": "ENSP00000499587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656849.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.102-2089C>T",
"hgvs_p": null,
"transcript": "XM_047437205.1",
"protein_id": "XP_047293161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437205.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.-277-2089C>T",
"hgvs_p": null,
"transcript": "XM_047437206.1",
"protein_id": "XP_047293162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "n.376+1821G>A",
"hgvs_p": null,
"transcript": "ENST00000705759.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000705759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "n.138-1161G>A",
"hgvs_p": null,
"transcript": "ENST00000705760.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000705760.1"
}
],
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"dbsnp": "rs1441152025",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.00142481,
"gnomad_genomes_af": 0.00877362,
"gnomad_exomes_ac": 562,
"gnomad_genomes_ac": 273,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13850700855255127,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.413,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.081,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014834.4",
"gene_symbol": "LRRC37A",
"hgnc_id": 29069,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001103154.2",
"gene_symbol": "ARL17B",
"hgnc_id": 32387,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*21+1821G>A",
"hgvs_p": null
}
],
"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
}