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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: 19-7745542-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7745542&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7745542,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021155.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.724C>G",
"hgvs_p": "p.Leu242Val",
"transcript": "NM_021155.4",
"protein_id": "NP_066978.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 404,
"cds_start": 724,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315599.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021155.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.724C>G",
"hgvs_p": "p.Leu242Val",
"transcript": "ENST00000315599.12",
"protein_id": "ENSP00000315477.6",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 404,
"cds_start": 724,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021155.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315599.12"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.724C>G",
"hgvs_p": "p.Leu242Val",
"transcript": "ENST00000354397.10",
"protein_id": "ENSP00000346373.5",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 398,
"cds_start": 724,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354397.10"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.652C>G",
"hgvs_p": "p.Leu218Val",
"transcript": "ENST00000315591.12",
"protein_id": "ENSP00000315407.7",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 380,
"cds_start": 652,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315591.12"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.652C>G",
"hgvs_p": "p.Leu218Val",
"transcript": "ENST00000601951.5",
"protein_id": "ENSP00000468827.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 380,
"cds_start": 652,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601951.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.592C>G",
"hgvs_p": "p.Leu198Val",
"transcript": "ENST00000204801.12",
"protein_id": "ENSP00000204801.7",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 360,
"cds_start": 592,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000204801.12"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.652C>G",
"hgvs_p": "p.Leu218Val",
"transcript": "ENST00000601256.1",
"protein_id": "ENSP00000470658.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 297,
"cds_start": 652,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601256.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.538+114C>G",
"hgvs_p": null,
"transcript": "ENST00000593660.5",
"protein_id": "ENSP00000470530.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593660.5"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.472+252C>G",
"hgvs_p": null,
"transcript": "ENST00000602261.5",
"protein_id": "ENSP00000471137.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602261.5"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.340+252C>G",
"hgvs_p": null,
"transcript": "ENST00000593821.5",
"protein_id": "ENSP00000471348.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593821.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.218+506C>G",
"hgvs_p": null,
"transcript": "ENST00000394161.9",
"protein_id": "ENSP00000377716.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394161.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288669",
"gene_hgnc_id": null,
"hgvs_c": "n.121C>G",
"hgvs_p": null,
"transcript": "ENST00000678003.1",
"protein_id": "ENSP00000504497.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678003.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.724C>G",
"hgvs_p": "p.Leu242Val",
"transcript": "NM_001144897.2",
"protein_id": "NP_001138369.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 398,
"cds_start": 724,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144897.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.652C>G",
"hgvs_p": "p.Leu218Val",
"transcript": "NM_001144896.2",
"protein_id": "NP_001138368.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 380,
"cds_start": 652,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144896.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.592C>G",
"hgvs_p": "p.Leu198Val",
"transcript": "NM_001144894.2",
"protein_id": "NP_001138366.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 360,
"cds_start": 592,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144894.2"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.472+252C>G",
"hgvs_p": null,
"transcript": "NM_001144895.2",
"protein_id": "NP_001138367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144895.2"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.340+252C>G",
"hgvs_p": null,
"transcript": "NM_001144893.2",
"protein_id": "NP_001138365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144893.2"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.266-450C>G",
"hgvs_p": null,
"transcript": "NM_001144899.2",
"protein_id": "NP_001138371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144899.2"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "c.266-450C>G",
"hgvs_p": null,
"transcript": "ENST00000394173.8",
"protein_id": "ENSP00000377728.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394173.8"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288669",
"gene_hgnc_id": null,
"hgvs_c": "n.46C>G",
"hgvs_p": null,
"transcript": "ENST00000676543.1",
"protein_id": "ENSP00000503143.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000676543.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288669",
"gene_hgnc_id": null,
"hgvs_c": "n.82C>G",
"hgvs_p": null,
"transcript": "ENST00000678780.1",
"protein_id": "ENSP00000503751.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678780.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"hgvs_c": "n.847C>G",
"hgvs_p": null,
"transcript": "NR_026692.2",
"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": "NR_026692.2"
}
],
"gene_symbol": "CD209",
"gene_hgnc_id": 1641,
"dbsnp": "rs11465380",
"frequency_reference_population": 0.0014220313,
"hom_count_reference_population": 42,
"allele_count_reference_population": 2288,
"gnomad_exomes_af": 0.000496179,
"gnomad_genomes_af": 0.0103076,
"gnomad_exomes_ac": 723,
"gnomad_genomes_ac": 1565,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 32,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003434211015701294,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.1423,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.045,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_021155.4",
"gene_symbol": "CD209",
"hgnc_id": 1641,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.724C>G",
"hgvs_p": "p.Leu242Val"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000678003.1",
"gene_symbol": "ENSG00000288669",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.121C>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
}