← Back to variant description
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: 7-30655655-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=30655655&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 30655655,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001202475.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.978C>A",
"hgvs_p": "p.Phe326Leu",
"transcript": "NM_001883.5",
"protein_id": "NP_001874.2",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 411,
"cds_start": 978,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000471646.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001883.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.978C>A",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000471646.6",
"protein_id": "ENSP00000418722.1",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 411,
"cds_start": 978,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001883.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471646.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Phe353Leu",
"transcript": "ENST00000348438.8",
"protein_id": "ENSP00000340943.4",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 438,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348438.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.978C>A",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000506074.6",
"protein_id": "ENSP00000426498.3",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 387,
"cds_start": 978,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506074.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Phe353Leu",
"transcript": "NM_001202475.1",
"protein_id": "NP_001189404.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 438,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202475.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.975C>A",
"hgvs_p": "p.Phe325Leu",
"transcript": "NM_001202482.2",
"protein_id": "NP_001189411.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 410,
"cds_start": 975,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202482.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.975C>A",
"hgvs_p": "p.Phe325Leu",
"transcript": "ENST00000942525.1",
"protein_id": "ENSP00000612584.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 410,
"cds_start": 975,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942525.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.936C>A",
"hgvs_p": "p.Phe312Leu",
"transcript": "NM_001202481.1",
"protein_id": "NP_001189410.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 397,
"cds_start": 936,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202481.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.936C>A",
"hgvs_p": "p.Phe312Leu",
"transcript": "ENST00000341843.8",
"protein_id": "ENSP00000344304.4",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 397,
"cds_start": 936,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341843.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.978C>A",
"hgvs_p": "p.Phe326Leu",
"transcript": "NM_001202483.2",
"protein_id": "NP_001189412.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 387,
"cds_start": 978,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202483.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.978C>A",
"hgvs_p": "p.Phe326Leu",
"transcript": "XM_047419893.1",
"protein_id": "XP_047275849.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 387,
"cds_start": 978,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419893.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.978C>A",
"hgvs_p": "p.Phe326Leu",
"transcript": "XM_047419892.1",
"protein_id": "XP_047275848.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 370,
"cds_start": 978,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419892.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "n.*1091C>A",
"hgvs_p": null,
"transcript": "ENST00000452278.5",
"protein_id": "ENSP00000401930.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000452278.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124901609",
"gene_hgnc_id": null,
"hgvs_c": "n.1859G>T",
"hgvs_p": null,
"transcript": "XR_007060276.1",
"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": "XR_007060276.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "n.*1091C>A",
"hgvs_p": null,
"transcript": "ENST00000452278.5",
"protein_id": "ENSP00000401930.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000452278.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305335",
"gene_hgnc_id": null,
"hgvs_c": "n.231+1232G>T",
"hgvs_p": null,
"transcript": "ENST00000810492.1",
"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": "ENST00000810492.1"
}
],
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"dbsnp": "rs140660551",
"frequency_reference_population": 0.000084877865,
"hom_count_reference_population": 0,
"allele_count_reference_population": 137,
"gnomad_exomes_af": 0.000090298,
"gnomad_genomes_af": 0.000032839,
"gnomad_exomes_ac": 132,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7580894231796265,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.9748,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.776,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001202475.1",
"gene_symbol": "CRHR2",
"hgnc_id": 2358,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Phe353Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007060276.1",
"gene_symbol": "LOC124901609",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1859G>T",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000810492.1",
"gene_symbol": "ENSG00000305335",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.231+1232G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}