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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: 10-127925926-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=127925926&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 127925926,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001323355.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-31+18617A>G",
"hgvs_p": null,
"transcript": "NM_006504.6",
"protein_id": "NP_006495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254667.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006504.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-31+18617A>G",
"hgvs_p": null,
"transcript": "ENST00000254667.8",
"protein_id": "ENSP00000254667.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006504.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254667.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.53+18617A>G",
"hgvs_p": null,
"transcript": "NM_001323355.2",
"protein_id": "NP_001310284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": null,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323355.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.53+18617A>G",
"hgvs_p": null,
"transcript": "NM_001323356.2",
"protein_id": "NP_001310285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": null,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323356.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-169+18617A>G",
"hgvs_p": null,
"transcript": "NM_001316676.2",
"protein_id": "NP_001303605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": null,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316676.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-8+18617A>G",
"hgvs_p": null,
"transcript": "ENST00000870711.1",
"protein_id": "ENSP00000540770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-186-5052A>G",
"hgvs_p": null,
"transcript": "ENST00000968589.1",
"protein_id": "ENSP00000638648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968589.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-31+17837A>G",
"hgvs_p": null,
"transcript": "ENST00000968593.1",
"protein_id": "ENSP00000638652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968593.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-31+17837A>G",
"hgvs_p": null,
"transcript": "ENST00000968596.1",
"protein_id": "ENSP00000638655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-31+6266A>G",
"hgvs_p": null,
"transcript": "ENST00000968597.1",
"protein_id": "ENSP00000638656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-31+18617A>G",
"hgvs_p": null,
"transcript": "ENST00000870712.1",
"protein_id": "ENSP00000540771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": null,
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"cds_length": 2100,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870712.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-8+18617A>G",
"hgvs_p": null,
"transcript": "ENST00000968591.1",
"protein_id": "ENSP00000638650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968591.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-31+18617A>G",
"hgvs_p": null,
"transcript": "ENST00000968594.1",
"protein_id": "ENSP00000638653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 696,
"cds_start": null,
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"cds_length": 2091,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968594.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
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"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-31+18617A>G",
"hgvs_p": null,
"transcript": "ENST00000968595.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000968595.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-8+18617A>G",
"hgvs_p": null,
"transcript": "ENST00000968590.1",
"protein_id": "ENSP00000638649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": null,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968590.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-31+18617A>G",
"hgvs_p": null,
"transcript": "ENST00000968592.1",
"protein_id": "ENSP00000638651.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000968592.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-202+18617A>G",
"hgvs_p": null,
"transcript": "ENST00000442830.5",
"protein_id": "ENSP00000410540.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": null,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442830.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.53+18617A>G",
"hgvs_p": null,
"transcript": "XM_017016467.2",
"protein_id": "XP_016871956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017016467.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.53+18617A>G",
"hgvs_p": null,
"transcript": "XM_011539994.3",
"protein_id": "XP_011538296.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "XM_011539994.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.53+18617A>G",
"hgvs_p": null,
"transcript": "XM_011539995.2",
"protein_id": "XP_011538297.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "XM_011539995.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.-31+18617A>G",
"hgvs_p": null,
"transcript": "XM_047425578.1",
"protein_id": "XP_047281534.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 699,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425578.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.53+18617A>G",
"hgvs_p": null,
"transcript": "XM_011539996.2",
"protein_id": "XP_011538298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
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"cds_length": 2037,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539996.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
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{
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],
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"gnomad_genomes_ac": 71430,
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"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.32,
"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": [
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "NM_001323355.2",
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"effects": [
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"inheritance_mode": "AR",
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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
}