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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: 1-27548619-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27548619&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27548619,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "ENST00000673934.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "NM_001371928.1",
"protein_id": "NP_001358857.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4398,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": "ENST00000673934.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "ENST00000673934.1",
"protein_id": "ENSP00000501218.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4398,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": "NM_001371928.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "NM_001029882.3",
"protein_id": "NP_001025053.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4328,
"cdna_end": null,
"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "ENST00000247087.10",
"protein_id": "ENSP00000247087.4",
"transcript_support_level": 5,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "ENST00000374011.6",
"protein_id": "ENSP00000363123.2",
"transcript_support_level": 5,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4466,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "ENST00000642245.1",
"protein_id": "ENSP00000495072.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4398,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "ENST00000642416.1",
"protein_id": "ENSP00000494394.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4120,
"cdna_end": null,
"cdna_length": 5734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "ENST00000644989.1",
"protein_id": "ENSP00000495665.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 6103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_005245849.4",
"protein_id": "XP_005245906.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4464,
"cdna_end": null,
"cdna_length": 6494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_005245850.4",
"protein_id": "XP_005245907.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4484,
"cdna_end": null,
"cdna_length": 6514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_005245851.4",
"protein_id": "XP_005245908.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4356,
"cdna_end": null,
"cdna_length": 6386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_005245852.4",
"protein_id": "XP_005245909.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 6163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_011541255.2",
"protein_id": "XP_011539557.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
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"cds_length": 4812,
"cdna_start": 4262,
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"cdna_length": 6292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_011541256.3",
"protein_id": "XP_011539558.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_011541257.3",
"protein_id": "XP_011539559.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
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"cdna_start": 5442,
"cdna_end": null,
"cdna_length": 7472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_047418010.1",
"protein_id": "XP_047273966.1",
"transcript_support_level": null,
"aa_start": 1166,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_047418011.1",
"protein_id": "XP_047273967.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
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"cdna_start": 4372,
"cdna_end": null,
"cdna_length": 6402,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_047418012.1",
"protein_id": "XP_047273968.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
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"cdna_start": 4461,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_047418013.1",
"protein_id": "XP_047273969.1",
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"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_047418014.1",
"protein_id": "XP_047273970.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_047418015.1",
"protein_id": "XP_047273971.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
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"cdna_start": 5680,
"cdna_end": null,
"cdna_length": 7710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.3497C>G",
"hgvs_p": "p.Ser1166*",
"transcript": "XM_047418016.1",
"protein_id": "XP_047273972.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3497,
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"cds_length": 4812,
"cdna_start": 4475,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
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{
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"verdict": "Pathogenic",
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{
"score": 7,
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"PP5"
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}