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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: 7-134449765-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=134449765&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 134449765,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001628.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "NM_001628.4",
"protein_id": "NP_001619.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 316,
"cds_start": 384,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285930.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001628.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000285930.9",
"protein_id": "ENSP00000285930.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 316,
"cds_start": 384,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001628.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285930.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "n.424G>A",
"hgvs_p": null,
"transcript": "ENST00000465351.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000465351.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "n.481G>A",
"hgvs_p": null,
"transcript": "ENST00000467829.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000467829.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "n.481G>A",
"hgvs_p": null,
"transcript": "ENST00000491741.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000491741.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000971768.1",
"protein_id": "ENSP00000641827.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 325,
"cds_start": 384,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971768.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000916187.1",
"protein_id": "ENSP00000586246.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 321,
"cds_start": 384,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916187.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000916181.1",
"protein_id": "ENSP00000586240.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 314,
"cds_start": 384,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916181.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.360G>A",
"hgvs_p": "p.Ser120Ser",
"transcript": "ENST00000971767.1",
"protein_id": "ENSP00000641826.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 308,
"cds_start": 360,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971767.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000896051.1",
"protein_id": "ENSP00000566110.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 307,
"cds_start": 384,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896051.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000916185.1",
"protein_id": "ENSP00000586244.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 306,
"cds_start": 384,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916185.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.315G>A",
"hgvs_p": "p.Ser105Ser",
"transcript": "ENST00000896049.1",
"protein_id": "ENSP00000566108.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 293,
"cds_start": 315,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896049.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000916179.1",
"protein_id": "ENSP00000586238.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 293,
"cds_start": 384,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916179.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000896053.1",
"protein_id": "ENSP00000566112.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 288,
"cds_start": 384,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896053.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.267G>A",
"hgvs_p": "p.Ser89Ser",
"transcript": "ENST00000916180.1",
"protein_id": "ENSP00000586239.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 277,
"cds_start": 267,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916180.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000896052.1",
"protein_id": "ENSP00000566111.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 275,
"cds_start": 384,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896052.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000896050.1",
"protein_id": "ENSP00000566109.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 266,
"cds_start": 384,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896050.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000971769.1",
"protein_id": "ENSP00000641828.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 265,
"cds_start": 384,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971769.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Ser128Ser",
"transcript": "ENST00000916190.1",
"protein_id": "ENSP00000586249.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 253,
"cds_start": 384,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916190.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.-49G>A",
"hgvs_p": null,
"transcript": "NM_001346142.1",
"protein_id": "NP_001333071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346142.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.352-646G>A",
"hgvs_p": null,
"transcript": "ENST00000916182.1",
"protein_id": "ENSP00000586241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": null,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916182.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.235-646G>A",
"hgvs_p": null,
"transcript": "ENST00000916186.1",
"protein_id": "ENSP00000586245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916186.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"protein_coding": true,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001628.4",
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"effects": [
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}