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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: 17-45814540-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45814540&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45814540,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000314537.10",
"consequences": [
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.122-1923A>G",
"hgvs_p": null,
"transcript": "NM_004382.5",
"protein_id": "NP_004373.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": "ENST00000314537.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.122-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000314537.10",
"protein_id": "ENSP00000326060.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": "NM_004382.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.122-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000398285.7",
"protein_id": "ENSP00000381333.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": -4,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.122-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000577353.5",
"protein_id": "ENSP00000462016.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": -4,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.122-6815A>G",
"hgvs_p": null,
"transcript": "ENST00000352855.9",
"protein_id": "ENSP00000344068.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINC02210-CRHR1",
"gene_hgnc_id": 51483,
"hgvs_c": "c.-404-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000634540.1",
"protein_id": "ENSP00000488912.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.-404-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000580876.6",
"protein_id": "ENSP00000516345.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3502,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.25-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000580955.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 2494,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.121+7443A>G",
"hgvs_p": null,
"transcript": "ENST00000619154.4",
"protein_id": "ENSP00000484545.1",
"transcript_support_level": 1,
"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": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.122-1923A>G",
"hgvs_p": null,
"transcript": "NM_001145146.2",
"protein_id": "NP_001138618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": -4,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.122-1923A>G",
"hgvs_p": null,
"transcript": "NM_001145148.2",
"protein_id": "NP_001138620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": -4,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.122-6815A>G",
"hgvs_p": null,
"transcript": "NM_001145147.2",
"protein_id": "NP_001138619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
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"cds_length": 1128,
"cdna_start": null,
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"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.-96-1923A>G",
"hgvs_p": null,
"transcript": "NM_001303020.2",
"protein_id": "NP_001289949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": -4,
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"cds_length": 945,
"cdna_start": null,
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"cdna_length": 2451,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINC02210-CRHR1",
"gene_hgnc_id": 51483,
"hgvs_c": "c.-96-1923A>G",
"hgvs_p": null,
"transcript": "NM_001303016.1",
"protein_id": "NP_001289945.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 285,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINC02210-CRHR1",
"gene_hgnc_id": 51483,
"hgvs_c": "c.-404-1923A>G",
"hgvs_p": null,
"transcript": "NM_001256299.3",
"protein_id": "NP_001243228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.-199+7443A>G",
"hgvs_p": null,
"transcript": "NM_001303018.2",
"protein_id": "NP_001289947.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.122-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000339069.9",
"protein_id": "ENSP00000340522.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.122-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000347197.9",
"protein_id": "ENSP00000239167.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.98-6815A>G",
"hgvs_p": null,
"transcript": "ENST00000582766.5",
"protein_id": null,
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},
{
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"strand": true,
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],
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINC02210-CRHR1",
"gene_hgnc_id": 51483,
"hgvs_c": "n.536-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000587305.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MAPT-AS1",
"gene_hgnc_id": 43738,
"hgvs_c": "n.2593+11043T>C",
"hgvs_p": null,
"transcript": "ENST00000634876.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.192-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000705340.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.405-1923A>G",
"hgvs_p": null,
"transcript": "ENST00000705341.1",
"protein_id": "ENSP00000516114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRHR1",
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"dbsnp": "rs171442",
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"gnomad_genomes_af": 0.894341,
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"gnomad_genomes_ac": 136176,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 61321,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.123,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000314537.10",
"gene_symbol": "CRHR1",
"hgnc_id": 2357,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.122-1923A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000634540.1",
"gene_symbol": "LINC02210-CRHR1",
"hgnc_id": 51483,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-404-1923A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000634876.2",
"gene_symbol": "MAPT-AS1",
"hgnc_id": 43738,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2593+11043T>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
}