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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: 7-30662196-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=30662196&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 30662196,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000471646.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Ile",
"transcript": "NM_001883.5",
"protein_id": "NP_001874.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 411,
"cds_start": 718,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": "ENST00000471646.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Ile",
"transcript": "ENST00000471646.6",
"protein_id": "ENSP00000418722.1",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 411,
"cds_start": 718,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": "NM_001883.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Ile",
"transcript": "ENST00000348438.8",
"protein_id": "ENSP00000340943.4",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 438,
"cds_start": 799,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Ile",
"transcript": "ENST00000506074.6",
"protein_id": "ENSP00000426498.3",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 387,
"cds_start": 718,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Ile",
"transcript": "NM_001202475.1",
"protein_id": "NP_001189404.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 438,
"cds_start": 799,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_001202482.2",
"protein_id": "NP_001189411.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 410,
"cds_start": 715,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Ile",
"transcript": "NM_001202481.1",
"protein_id": "NP_001189410.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 397,
"cds_start": 676,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Ile",
"transcript": "ENST00000341843.8",
"protein_id": "ENSP00000344304.4",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 397,
"cds_start": 676,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Ile",
"transcript": "NM_001202483.2",
"protein_id": "NP_001189412.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 387,
"cds_start": 718,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 3041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Ile",
"transcript": "XM_047419893.1",
"protein_id": "XP_047275849.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 387,
"cds_start": 718,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Ile",
"transcript": "XM_047419892.1",
"protein_id": "XP_047275848.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 370,
"cds_start": 718,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "n.*831G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"hgvs_c": "n.*831G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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+7773C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRHR2",
"gene_hgnc_id": 2358,
"dbsnp": "rs8192498",
"frequency_reference_population": 0.010957547,
"hom_count_reference_population": 155,
"allele_count_reference_population": 17685,
"gnomad_exomes_af": 0.0105788,
"gnomad_genomes_af": 0.0145959,
"gnomad_exomes_ac": 15464,
"gnomad_genomes_ac": 2221,
"gnomad_exomes_homalt": 133,
"gnomad_genomes_homalt": 22,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006751954555511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0809,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.986,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000471646.6",
"gene_symbol": "CRHR2",
"hgnc_id": 2358,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Ile"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000810492.1",
"gene_symbol": "ENSG00000305335",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.231+7773C>T",
"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
}