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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: 20-2965104-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=2965104&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 2965104,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001388322.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "NM_001385305.1",
"protein_id": "NP_001372234.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399903.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385305.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "ENST00000399903.7",
"protein_id": "ENSP00000382787.2",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385305.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399903.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "ENST00000216877.10",
"protein_id": "ENSP00000216877.6",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 793,
"cds_start": 317,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216877.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "ENST00000356147.3",
"protein_id": "ENSP00000348468.3",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 793,
"cds_start": 317,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356147.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.-730C>T",
"hgvs_p": null,
"transcript": "NM_001388322.1",
"protein_id": "NP_001375251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388322.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.-730C>T",
"hgvs_p": null,
"transcript": "NM_001388323.1",
"protein_id": "NP_001375252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388323.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.-757C>T",
"hgvs_p": null,
"transcript": "NM_001388324.1",
"protein_id": "NP_001375253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388324.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "ENST00000970279.1",
"protein_id": "ENSP00000640338.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 887,
"cds_start": 317,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970279.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "NM_001385302.1",
"protein_id": "NP_001372231.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 813,
"cds_start": 350,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385302.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "NM_001385303.1",
"protein_id": "NP_001372232.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 813,
"cds_start": 350,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385303.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "ENST00000876932.1",
"protein_id": "ENSP00000546991.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 812,
"cds_start": 317,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876932.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "NM_001385304.1",
"protein_id": "NP_001372233.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 804,
"cds_start": 350,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385304.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "NM_001385306.1",
"protein_id": "NP_001372235.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385306.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "NM_001385307.1",
"protein_id": "NP_001372236.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385307.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "NM_001385308.1",
"protein_id": "NP_001372237.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385308.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "NM_001388320.1",
"protein_id": "NP_001375249.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388320.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "NM_002836.4",
"protein_id": "NP_002827.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002836.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "ENST00000876903.1",
"protein_id": "ENSP00000546962.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876903.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "ENST00000876904.1",
"protein_id": "ENSP00000546963.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876904.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "ENST00000876905.1",
"protein_id": "ENSP00000546964.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876905.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "ENST00000876907.1",
"protein_id": "ENSP00000546966.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876907.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRA",
"gene_hgnc_id": 9664,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Met",
"transcript": "ENST00000911874.1",
"protein_id": "ENSP00000581933.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 802,
"cds_start": 317,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "not specified",
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}
],
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}