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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: 1-21721716-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=21721716&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 21721716,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032236.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "NM_032236.8",
"protein_id": "NP_115612.4",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308271.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032236.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "ENST00000308271.14",
"protein_id": "ENSP00000309262.9",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032236.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308271.14"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565His",
"transcript": "ENST00000529637.5",
"protein_id": "ENSP00000431949.1",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1694,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529637.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "ENST00000400301.5",
"protein_id": "ENSP00000383157.1",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 983,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400301.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "ENST00000903051.1",
"protein_id": "ENSP00000573110.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903051.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565His",
"transcript": "NM_001350167.2",
"protein_id": "NP_001337096.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1694,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350167.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "NM_001350168.2",
"protein_id": "NP_001337097.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350168.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "ENST00000903043.1",
"protein_id": "ENSP00000573102.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903043.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565His",
"transcript": "ENST00000903045.1",
"protein_id": "ENSP00000573104.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1694,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903045.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565His",
"transcript": "NM_001350166.2",
"protein_id": "NP_001337095.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1033,
"cds_start": 1694,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350166.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565His",
"transcript": "ENST00000903046.1",
"protein_id": "ENSP00000573105.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1033,
"cds_start": 1694,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903046.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "ENST00000963813.1",
"protein_id": "ENSP00000633872.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963813.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "ENST00000963818.1",
"protein_id": "ENSP00000633877.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963818.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "ENST00000922671.1",
"protein_id": "ENSP00000592730.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 994,
"cds_start": 1697,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922671.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "ENST00000903050.1",
"protein_id": "ENSP00000573109.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 993,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903050.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "NM_001330394.3",
"protein_id": "NP_001317323.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 983,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330394.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566His",
"transcript": "ENST00000903044.1",
"protein_id": "ENSP00000573103.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 982,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903044.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565His",
"transcript": "ENST00000963814.1",
"protein_id": "ENSP00000633873.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 982,
"cds_start": 1694,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963814.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1517G>A",
"hgvs_p": "p.Arg506His",
"transcript": "ENST00000903049.1",
"protein_id": "ENSP00000573108.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 975,
"cds_start": 1517,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903049.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500His",
"transcript": "ENST00000903048.1",
"protein_id": "ENSP00000573107.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 969,
"cds_start": 1499,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903048.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1496G>A",
"hgvs_p": "p.Arg499His",
"transcript": "NM_001350164.2",
"protein_id": "NP_001337093.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 968,
"cds_start": 1496,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350164.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500His",
"transcript": "ENST00000922670.1",
"protein_id": "ENSP00000592729.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 968,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
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}
],
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}