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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: 2-28783923-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=28783923&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 28783923,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_002709.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.537G>A",
"hgvs_p": "p.Leu179Leu",
"transcript": "NM_002709.3",
"protein_id": "NP_002700.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 327,
"cds_start": 537,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395366.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002709.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.537G>A",
"hgvs_p": "p.Leu179Leu",
"transcript": "ENST00000395366.3",
"protein_id": "ENSP00000378769.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 327,
"cds_start": 537,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002709.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395366.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.537G>A",
"hgvs_p": "p.Leu179Leu",
"transcript": "ENST00000296122.10",
"protein_id": "ENSP00000296122.6",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 327,
"cds_start": 537,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296122.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Leu220Leu",
"transcript": "ENST00000703174.1",
"protein_id": "ENSP00000515220.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 368,
"cds_start": 660,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703174.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Leu220Leu",
"transcript": "ENST00000941106.1",
"protein_id": "ENSP00000611165.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 368,
"cds_start": 660,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941106.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.564G>A",
"hgvs_p": "p.Leu188Leu",
"transcript": "ENST00000868413.1",
"protein_id": "ENSP00000538472.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 336,
"cds_start": 564,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868413.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.564G>A",
"hgvs_p": "p.Leu188Leu",
"transcript": "ENST00000941109.1",
"protein_id": "ENSP00000611168.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 336,
"cds_start": 564,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941109.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.537G>A",
"hgvs_p": "p.Leu179Leu",
"transcript": "NM_206876.2",
"protein_id": "NP_996759.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 327,
"cds_start": 537,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206876.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.537G>A",
"hgvs_p": "p.Leu179Leu",
"transcript": "ENST00000420282.6",
"protein_id": "ENSP00000398839.2",
"transcript_support_level": 4,
"aa_start": 179,
"aa_end": null,
"aa_length": 327,
"cds_start": 537,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420282.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.537G>A",
"hgvs_p": "p.Leu179Leu",
"transcript": "ENST00000441461.6",
"protein_id": "ENSP00000414918.2",
"transcript_support_level": 2,
"aa_start": 179,
"aa_end": null,
"aa_length": 327,
"cds_start": 537,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441461.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.537G>A",
"hgvs_p": "p.Leu179Leu",
"transcript": "ENST00000703173.1",
"protein_id": "ENSP00000515219.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 327,
"cds_start": 537,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703173.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.534G>A",
"hgvs_p": "p.Leu178Leu",
"transcript": "ENST00000941105.1",
"protein_id": "ENSP00000611164.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 326,
"cds_start": 534,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941105.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.534G>A",
"hgvs_p": "p.Leu178Leu",
"transcript": "ENST00000941108.1",
"protein_id": "ENSP00000611167.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 326,
"cds_start": 534,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941108.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.525G>A",
"hgvs_p": "p.Leu175Leu",
"transcript": "ENST00000868411.1",
"protein_id": "ENSP00000538470.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 323,
"cds_start": 525,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868411.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.504G>A",
"hgvs_p": "p.Leu168Leu",
"transcript": "ENST00000703176.1",
"protein_id": "ENSP00000515221.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 316,
"cds_start": 504,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703176.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.537G>A",
"hgvs_p": "p.Leu179Leu",
"transcript": "ENST00000941113.1",
"protein_id": "ENSP00000611172.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 316,
"cds_start": 537,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941113.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.471G>A",
"hgvs_p": "p.Leu157Leu",
"transcript": "ENST00000941110.1",
"protein_id": "ENSP00000611169.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 305,
"cds_start": 471,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941110.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.453G>A",
"hgvs_p": "p.Leu151Leu",
"transcript": "ENST00000455580.6",
"protein_id": "ENSP00000390715.2",
"transcript_support_level": 3,
"aa_start": 151,
"aa_end": null,
"aa_length": 299,
"cds_start": 453,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455580.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.453G>A",
"hgvs_p": "p.Leu151Leu",
"transcript": "ENST00000703172.1",
"protein_id": "ENSP00000515218.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 299,
"cds_start": 453,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703172.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.453G>A",
"hgvs_p": "p.Leu151Leu",
"transcript": "ENST00000868412.1",
"protein_id": "ENSP00000538471.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 299,
"cds_start": 453,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868412.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.453G>A",
"hgvs_p": "p.Leu151Leu",
"transcript": "ENST00000868414.1",
"protein_id": "ENSP00000538473.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 299,
"cds_start": 453,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868414.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.537G>A",
"hgvs_p": "p.Leu179Leu",
"transcript": "ENST00000941104.1",
"protein_id": "ENSP00000611163.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 296,
"cds_start": 537,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.27,
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"phylop100way_prediction": "Benign",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002709.3",
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"effects": [
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],
"inheritance_mode": "AD",
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{
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"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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],
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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
}