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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: 1-27547319-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27547319&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27547319,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001029882.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "NM_001371928.1",
"protein_id": "NP_001358857.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673934.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371928.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000673934.1",
"protein_id": "ENSP00000501218.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371928.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673934.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "NM_001029882.3",
"protein_id": "NP_001025053.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001029882.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000247087.10",
"protein_id": "ENSP00000247087.4",
"transcript_support_level": 5,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000247087.10"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000374011.6",
"protein_id": "ENSP00000363123.2",
"transcript_support_level": 5,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374011.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000642245.1",
"protein_id": "ENSP00000495072.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642245.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000642416.1",
"protein_id": "ENSP00000494394.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642416.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000644989.1",
"protein_id": "ENSP00000495665.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644989.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000868919.1",
"protein_id": "ENSP00000538978.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868919.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000868920.1",
"protein_id": "ENSP00000538979.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868920.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000868921.1",
"protein_id": "ENSP00000538980.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868921.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000868922.1",
"protein_id": "ENSP00000538981.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868922.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000931339.1",
"protein_id": "ENSP00000601398.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931339.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000931340.1",
"protein_id": "ENSP00000601399.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931340.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000931341.1",
"protein_id": "ENSP00000601400.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931341.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHDC1",
"gene_hgnc_id": 25230,
"hgvs_c": "c.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "ENST00000954237.1",
"protein_id": "ENSP00000624296.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954237.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "XM_005245849.4",
"protein_id": "XP_005245906.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245849.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "XM_005245850.4",
"protein_id": "XP_005245907.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245850.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "XM_005245851.4",
"protein_id": "XP_005245908.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245851.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "XM_005245852.4",
"protein_id": "XP_005245909.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245852.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "XM_011541255.2",
"protein_id": "XP_011539557.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541255.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.4797C>T",
"hgvs_p": "p.Thr1599Thr",
"transcript": "XM_011541256.3",
"protein_id": "XP_011539558.1",
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"phenotype_combined": "not provided|AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome",
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}
],
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}