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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: 12-6724801-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6724801&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6724801,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016319.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "NM_001164094.2",
"protein_id": "NP_001157566.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": "ENST00000543155.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164094.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000543155.6",
"protein_id": "ENSP00000438115.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": "NM_001164094.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543155.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000229251.7",
"protein_id": "ENSP00000229251.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229251.7"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000534947.5",
"protein_id": "ENSP00000446039.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534947.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000956857.1",
"protein_id": "ENSP00000626916.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 279,
"cds_start": 145,
"cds_end": null,
"cds_length": 840,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956857.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "NM_001164093.2",
"protein_id": "NP_001157565.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164093.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "NM_001164095.3",
"protein_id": "NP_001157567.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164095.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "NM_016319.4",
"protein_id": "NP_057403.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016319.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000534877.5",
"protein_id": "ENSP00000438363.1",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534877.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000539735.5",
"protein_id": "ENSP00000441852.1",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539735.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000889562.1",
"protein_id": "ENSP00000559621.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889562.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000889563.1",
"protein_id": "ENSP00000559622.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889563.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000889564.1",
"protein_id": "ENSP00000559623.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889564.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000889565.1",
"protein_id": "ENSP00000559624.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889565.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000889567.1",
"protein_id": "ENSP00000559626.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889567.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000889568.1",
"protein_id": "ENSP00000559627.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889568.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000889570.1",
"protein_id": "ENSP00000559629.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889570.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000889573.1",
"protein_id": "ENSP00000559632.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889573.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000928877.1",
"protein_id": "ENSP00000598936.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928877.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000928879.1",
"protein_id": "ENSP00000598938.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
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"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928879.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000928883.1",
"protein_id": "ENSP00000598942.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928883.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.145A>C",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000956858.1",
"protein_id": "ENSP00000626917.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 275,
"cds_start": 145,
"cds_end": null,
"cds_length": 828,
"cdna_start": 278,
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}