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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: 16-57698969-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57698969&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57698969,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032269.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "NM_001289162.2",
"protein_id": "NP_001276091.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 874,
"cds_start": 323,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360716.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289162.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000360716.8",
"protein_id": "ENSP00000353942.3",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 874,
"cds_start": 323,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001289162.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360716.8"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000394337.8",
"protein_id": "ENSP00000377869.4",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 874,
"cds_start": 323,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394337.8"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "NM_032269.6",
"protein_id": "NP_115645.4",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 874,
"cds_start": 323,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032269.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000871948.1",
"protein_id": "ENSP00000542007.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 874,
"cds_start": 323,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871948.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000949576.1",
"protein_id": "ENSP00000619635.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 874,
"cds_start": 323,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949576.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000871946.1",
"protein_id": "ENSP00000542005.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 831,
"cds_start": 323,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871946.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000949575.1",
"protein_id": "ENSP00000619634.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 831,
"cds_start": 323,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949575.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000871947.1",
"protein_id": "ENSP00000542006.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 824,
"cds_start": 323,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871947.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "NM_001289163.2",
"protein_id": "NP_001276092.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 809,
"cds_start": 323,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289163.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000336825.12",
"protein_id": "ENSP00000338938.8",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 809,
"cds_start": 323,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336825.12"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000563126.5",
"protein_id": "ENSP00000457676.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 169,
"cds_start": 323,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563126.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "XM_047434768.1",
"protein_id": "XP_047290724.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 874,
"cds_start": 323,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434768.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "XM_047434769.1",
"protein_id": "XP_047290725.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 831,
"cds_start": 323,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434769.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "XM_047434770.1",
"protein_id": "XP_047290726.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 831,
"cds_start": 323,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434770.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "XM_047434771.1",
"protein_id": "XP_047290727.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 809,
"cds_start": 323,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434771.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "XM_047434772.1",
"protein_id": "XP_047290728.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 766,
"cds_start": 323,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434772.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.-33-1176T>G",
"hgvs_p": null,
"transcript": "ENST00000569167.1",
"protein_id": "ENSP00000455994.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": null,
"cds_end": null,
"cds_length": 159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569167.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260467",
"gene_hgnc_id": null,
"hgvs_c": "n.250-855A>C",
"hgvs_p": null,
"transcript": "ENST00000563062.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000563062.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "n.203+817T>G",
"hgvs_p": null,
"transcript": "ENST00000564297.5",
"protein_id": "ENSP00000454722.1",
"transcript_support_level": 2,
"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": "ENST00000564297.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"hgvs_c": "c.*41T>G",
"hgvs_p": null,
"transcript": "ENST00000569375.5",
"protein_id": "ENSP00000456441.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569375.5"
}
],
"gene_symbol": "DRC7",
"gene_hgnc_id": 25289,
"dbsnp": "rs750086657",
"frequency_reference_population": 0.000002736199,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027362,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8754345178604126,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.621,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7053,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.244,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032269.6",
"gene_symbol": "DRC7",
"hgnc_id": 25289,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000563062.1",
"gene_symbol": "ENSG00000260467",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.250-855A>C",
"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
}