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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: 7-150796436-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150796436&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150796436,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001362691.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "NM_001101312.2",
"protein_id": "NP_001094782.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": "ENST00000326442.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001101312.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000326442.10",
"protein_id": "ENSP00000318409.5",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": "NM_001101312.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326442.10"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000447204.6",
"protein_id": "ENSP00000410269.2",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447204.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854817.1",
"protein_id": "ENSP00000524876.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 318,
"cds_start": 134,
"cds_end": null,
"cds_length": 957,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854817.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854831.1",
"protein_id": "ENSP00000524890.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 318,
"cds_start": 134,
"cds_end": null,
"cds_length": 957,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854831.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854844.1",
"protein_id": "ENSP00000524903.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 318,
"cds_start": 134,
"cds_end": null,
"cds_length": 957,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854844.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854854.1",
"protein_id": "ENSP00000524913.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 301,
"cds_start": 134,
"cds_end": null,
"cds_length": 906,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854854.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.182A>G",
"hgvs_p": "p.Lys61Arg",
"transcript": "NM_001362691.2",
"protein_id": "NP_001349620.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 286,
"cds_start": 182,
"cds_end": null,
"cds_length": 861,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362691.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.182A>G",
"hgvs_p": "p.Lys61Arg",
"transcript": "NM_001362692.2",
"protein_id": "NP_001349621.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 286,
"cds_start": 182,
"cds_end": null,
"cds_length": 861,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362692.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854850.1",
"protein_id": "ENSP00000524909.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 278,
"cds_start": 134,
"cds_end": null,
"cds_length": 837,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854850.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "NM_001101311.2",
"protein_id": "NP_001094781.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001101311.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "NM_014020.4",
"protein_id": "NP_054739.3",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014020.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000429904.6",
"protein_id": "ENSP00000397810.2",
"transcript_support_level": 2,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429904.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000492607.5",
"protein_id": "ENSP00000419258.1",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492607.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854800.1",
"protein_id": "ENSP00000524859.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854800.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854801.1",
"protein_id": "ENSP00000524860.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854801.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854803.1",
"protein_id": "ENSP00000524861.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854803.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854804.1",
"protein_id": "ENSP00000524862.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
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"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854804.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854805.1",
"protein_id": "ENSP00000524864.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854805.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854807.1",
"protein_id": "ENSP00000524866.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854807.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854808.1",
"protein_id": "ENSP00000524867.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854808.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Lys45Arg",
"transcript": "ENST00000854811.1",
"protein_id": "ENSP00000524870.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 270,
"cds_start": 134,
"cds_end": null,
"cds_length": 813,
"cdna_start": 705,
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{
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],
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"computational_score_selected": 0.04384121298789978,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001362691.2",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}