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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: 17-1766931-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1766931&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1766931,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_002615.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "NM_002615.7",
"protein_id": "NP_002606.3",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254722.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002615.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000254722.9",
"protein_id": "ENSP00000254722.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002615.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254722.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869424.1",
"protein_id": "ENSP00000539483.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 427,
"cds_start": 21,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869424.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "NM_001329903.2",
"protein_id": "NP_001316832.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329903.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869426.1",
"protein_id": "ENSP00000539485.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869426.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869427.1",
"protein_id": "ENSP00000539486.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869427.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869428.1",
"protein_id": "ENSP00000539487.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869428.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869429.1",
"protein_id": "ENSP00000539488.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869429.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869430.1",
"protein_id": "ENSP00000539489.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869430.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869432.1",
"protein_id": "ENSP00000539491.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869432.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869433.1",
"protein_id": "ENSP00000539492.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869433.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869434.1",
"protein_id": "ENSP00000539493.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869434.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869435.1",
"protein_id": "ENSP00000539494.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869435.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000928382.1",
"protein_id": "ENSP00000598441.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928382.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000960886.1",
"protein_id": "ENSP00000630945.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960886.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000960888.1",
"protein_id": "ENSP00000630947.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 418,
"cds_start": 21,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960888.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869425.1",
"protein_id": "ENSP00000539484.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 415,
"cds_start": 21,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869425.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000960887.1",
"protein_id": "ENSP00000630946.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 409,
"cds_start": 21,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960887.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000869431.1",
"protein_id": "ENSP00000539490.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 404,
"cds_start": 21,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869431.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000570731.5",
"protein_id": "ENSP00000459869.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 131,
"cds_start": 21,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570731.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000571360.5",
"protein_id": "ENSP00000461660.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 127,
"cds_start": 21,
"cds_end": null,
"cds_length": 385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571360.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000577053.1",
"protein_id": "ENSP00000460842.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 110,
"cds_start": 21,
"cds_end": null,
"cds_length": 335,
"cdna_start": null,
"cdna_end": null,
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],
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"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002615.7",
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"effects": [
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"inheritance_mode": "AR,AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}