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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: 4-142028851-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=142028851&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 142028851,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001101669.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "NM_001101669.3",
"protein_id": "NP_001095139.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3052,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": "ENST00000262992.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "ENST00000262992.9",
"protein_id": "ENSP00000262992.4",
"transcript_support_level": 5,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3052,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": "NM_001101669.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "ENST00000508116.5",
"protein_id": "ENSP00000423954.1",
"transcript_support_level": 1,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3059,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "ENST00000513000.5",
"protein_id": "ENSP00000425487.1",
"transcript_support_level": 1,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3140,
"cdna_end": null,
"cdna_length": 8831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2733G>T",
"hgvs_p": "p.Met911Ile",
"transcript": "NM_001385339.1",
"protein_id": "NP_001372268.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 933,
"cds_start": 2733,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 3222,
"cdna_end": null,
"cdna_length": 8913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2733G>T",
"hgvs_p": "p.Met911Ile",
"transcript": "NM_001385343.1",
"protein_id": "NP_001372272.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 933,
"cds_start": 2733,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 3119,
"cdna_end": null,
"cdna_length": 8810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "NM_001385334.1",
"protein_id": "NP_001372263.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3157,
"cdna_end": null,
"cdna_length": 8848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "NM_001385336.1",
"protein_id": "NP_001372265.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 8906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "NM_001385338.1",
"protein_id": "NP_001372267.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3195,
"cdna_end": null,
"cdna_length": 8886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "NM_001385341.1",
"protein_id": "NP_001372270.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3092,
"cdna_end": null,
"cdna_length": 8783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "NM_001385342.1",
"protein_id": "NP_001372271.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 8719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "NM_001385344.1",
"protein_id": "NP_001372273.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
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"cdna_start": 3256,
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"cdna_length": 8947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Met902Ile",
"transcript": "NM_003866.3",
"protein_id": "NP_003857.2",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 924,
"cds_start": 2706,
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"cds_length": 2775,
"cdna_start": 3385,
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"cdna_length": 9076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2301G>T",
"hgvs_p": "p.Met767Ile",
"transcript": "NM_001385351.1",
"protein_id": "NP_001372280.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 2301,
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"cdna_start": 2842,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2178G>T",
"hgvs_p": "p.Met726Ile",
"transcript": "NM_001385455.1",
"protein_id": "NP_001372384.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 748,
"cds_start": 2178,
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"cds_length": 2247,
"cdna_start": 2719,
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"cdna_length": 8410,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2178G>T",
"hgvs_p": "p.Met726Ile",
"transcript": "ENST00000850954.1",
"protein_id": "ENSP00000521038.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2175G>T",
"hgvs_p": "p.Met725Ile",
"transcript": "NM_001385382.1",
"protein_id": "NP_001372311.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 747,
"cds_start": 2175,
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"cdna_start": 2716,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2151G>T",
"hgvs_p": "p.Met717Ile",
"transcript": "NM_001385350.1",
"protein_id": "NP_001372279.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 739,
"cds_start": 2151,
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"cdna_start": 2660,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2151G>T",
"hgvs_p": "p.Met717Ile",
"transcript": "NM_001385379.1",
"protein_id": "NP_001372308.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2151G>T",
"hgvs_p": "p.Met717Ile",
"transcript": "NM_001385383.1",
"protein_id": "NP_001372312.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2151G>T",
"hgvs_p": "p.Met717Ile",
"transcript": "NM_001385457.1",
"protein_id": "NP_001372386.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
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"cds_start": 2151,
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"cdna_start": 2351,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2151G>T",
"hgvs_p": "p.Met717Ile",
"transcript": "NM_001385461.1",
"protein_id": "NP_001372390.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 739,
"cds_start": 2151,
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"cdna_start": 2530,
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"cdna_length": 8221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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}
],
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}