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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: 7-150792155-AC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150792155&ref=AC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM176B",
"hgnc_id": 29596,
"hgvs_c": "c.668_669delGTinsTC",
"hgvs_p": "p.Arg223Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001362691.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1115,
"cdna_start": 693,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001101312.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326442.10",
"protein_coding": true,
"protein_id": "NP_001094782.1",
"strand": false,
"transcript": "NM_001101312.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1115,
"cdna_start": 693,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000326442.10",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001101312.2",
"protein_coding": true,
"protein_id": "ENSP00000318409.5",
"strand": false,
"transcript": "ENST00000326442.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 994,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000447204.6",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410269.2",
"strand": false,
"transcript": "ENST00000447204.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 957,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854817.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.764_765delGTinsTC",
"hgvs_p": "p.Arg255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524876.1",
"strand": false,
"transcript": "ENST00000854817.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 957,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854831.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.764_765delGTinsTC",
"hgvs_p": "p.Arg255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524890.1",
"strand": false,
"transcript": "ENST00000854831.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1262,
"cdna_start": 831,
"cds_end": null,
"cds_length": 957,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854844.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.764_765delGTinsTC",
"hgvs_p": "p.Arg255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524903.1",
"strand": false,
"transcript": "ENST00000854844.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1201,
"cdna_start": 771,
"cds_end": null,
"cds_length": 906,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854854.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.713_714delGTinsTC",
"hgvs_p": "p.Arg238Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524913.1",
"strand": false,
"transcript": "ENST00000854854.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": 759,
"cds_end": null,
"cds_length": 861,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001362691.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.668_669delGTinsTC",
"hgvs_p": "p.Arg223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349620.1",
"strand": false,
"transcript": "NM_001362691.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1173,
"cdna_start": 751,
"cds_end": null,
"cds_length": 861,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001362692.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.668_669delGTinsTC",
"hgvs_p": "p.Arg223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349621.1",
"strand": false,
"transcript": "NM_001362692.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 278,
"aa_ref": "R",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1137,
"cdna_start": 706,
"cds_end": null,
"cds_length": 837,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854850.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.644_645delGTinsTC",
"hgvs_p": "p.Arg215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524909.1",
"strand": false,
"transcript": "ENST00000854850.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1123,
"cdna_start": 701,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001101311.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001094781.1",
"strand": false,
"transcript": "NM_001101311.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 994,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014020.4",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_054739.3",
"strand": false,
"transcript": "NM_014020.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 784,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429904.6",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397810.2",
"strand": false,
"transcript": "ENST00000429904.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1265,
"cdna_start": 827,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492607.5",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419258.1",
"strand": false,
"transcript": "ENST00000492607.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 765,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854800.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524859.1",
"strand": false,
"transcript": "ENST00000854800.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": 813,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854801.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524860.1",
"strand": false,
"transcript": "ENST00000854801.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854803.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524861.1",
"strand": false,
"transcript": "ENST00000854803.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854804.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524862.1",
"strand": false,
"transcript": "ENST00000854804.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854805.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524864.1",
"strand": false,
"transcript": "ENST00000854805.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854807.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620_621delGTinsTC",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524866.1",
"strand": false,
"transcript": "ENST00000854807.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1195,
"cdna_start": 762,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854808.1",
"gene_hgnc_id": 29596,
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