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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: 17-42815962-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42815962&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42815962,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003766.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "NM_001313998.2",
"protein_id": "NP_001300927.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 450,
"cds_start": 776,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000590099.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313998.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000590099.6",
"protein_id": "ENSP00000465364.1",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 450,
"cds_start": 776,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001313998.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590099.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000361523.8",
"protein_id": "ENSP00000355231.3",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 450,
"cds_start": 776,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361523.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Thr305Met",
"transcript": "ENST00000893295.1",
"protein_id": "ENSP00000563354.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 496,
"cds_start": 914,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893295.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Thr290Met",
"transcript": "ENST00000893287.1",
"protein_id": "ENSP00000563346.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 481,
"cds_start": 869,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893287.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.845C>T",
"hgvs_p": "p.Thr282Met",
"transcript": "ENST00000893289.1",
"protein_id": "ENSP00000563348.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 473,
"cds_start": 845,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893289.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000893292.1",
"protein_id": "ENSP00000563351.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 463,
"cds_start": 776,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893292.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "NM_003766.5",
"protein_id": "NP_003757.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 450,
"cds_start": 776,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003766.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000893288.1",
"protein_id": "ENSP00000563347.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 450,
"cds_start": 776,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893288.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000967385.1",
"protein_id": "ENSP00000637444.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 450,
"cds_start": 776,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967385.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000967386.1",
"protein_id": "ENSP00000637445.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 450,
"cds_start": 776,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967386.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Thr258Met",
"transcript": "ENST00000893293.1",
"protein_id": "ENSP00000563352.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 449,
"cds_start": 773,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893293.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000967388.1",
"protein_id": "ENSP00000637447.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 447,
"cds_start": 776,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967388.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Met",
"transcript": "ENST00000893290.1",
"protein_id": "ENSP00000563349.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 438,
"cds_start": 740,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893290.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000967391.1",
"protein_id": "ENSP00000637450.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 435,
"cds_start": 776,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967391.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Met",
"transcript": "ENST00000893294.1",
"protein_id": "ENSP00000563353.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 374,
"cds_start": 548,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893294.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000967389.1",
"protein_id": "ENSP00000637448.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 374,
"cds_start": 776,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967389.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "NM_001313999.1",
"protein_id": "NP_001300928.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 355,
"cds_start": 776,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313999.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000922825.1",
"protein_id": "ENSP00000592884.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 332,
"cds_start": 776,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922825.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Met",
"transcript": "NM_001314000.2",
"protein_id": "NP_001300929.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 279,
"cds_start": 548,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314000.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Met",
"transcript": "ENST00000438274.7",
"protein_id": "ENSP00000416173.2",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 279,
"cds_start": 548,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438274.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BECN1",
"gene_hgnc_id": 1034,
"hgvs_c": "c.395C>T",
"hgvs_p": "p.Thr132Met",
"transcript": "ENST00000586589.5",
"protein_id": "ENSP00000466281.1",
"transcript_support_level": 3,
"aa_start": 132,
"aa_end": null,
"aa_length": 228,
"cds_start": 395,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}