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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: 17-50607905-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50607905&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50607905,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000359106.10",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "NM_018896.5",
"protein_id": "NP_061496.2",
"transcript_support_level": null,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2377,
"cds_start": 4591,
"cds_end": null,
"cds_length": 7134,
"cdna_start": 5336,
"cdna_end": null,
"cdna_length": 8602,
"mane_select": "ENST00000359106.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000359106.10",
"protein_id": "ENSP00000352011.5",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2377,
"cds_start": 4591,
"cds_end": null,
"cds_length": 7134,
"cdna_start": 5336,
"cdna_end": null,
"cdna_length": 8602,
"mane_select": "NM_018896.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000507336.5",
"protein_id": "ENSP00000420918.1",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2366,
"cds_start": 4591,
"cds_end": null,
"cds_length": 7101,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 7116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000507510.6",
"protein_id": "ENSP00000423112.2",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2332,
"cds_start": 4591,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 7014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000515765.5",
"protein_id": "ENSP00000426232.1",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2321,
"cds_start": 4591,
"cds_end": null,
"cds_length": 6966,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000515411.5",
"protein_id": "ENSP00000423155.1",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2314,
"cds_start": 4591,
"cds_end": null,
"cds_length": 6945,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 6960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Met1508Val",
"transcript": "ENST00000502264.5",
"protein_id": "ENSP00000425522.1",
"transcript_support_level": 1,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2306,
"cds_start": 4522,
"cds_end": null,
"cds_length": 6921,
"cdna_start": 4522,
"cdna_end": null,
"cdna_length": 6921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Met1508Val",
"transcript": "ENST00000510115.5",
"protein_id": "ENSP00000427173.1",
"transcript_support_level": 1,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2298,
"cds_start": 4522,
"cds_end": null,
"cds_length": 6897,
"cdna_start": 4522,
"cdna_end": null,
"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000514079.5",
"protein_id": "ENSP00000423317.1",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2291,
"cds_start": 4591,
"cds_end": null,
"cds_length": 6876,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000515165.5",
"protein_id": "ENSP00000426098.1",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2284,
"cds_start": 4591,
"cds_end": null,
"cds_length": 6855,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 6870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000507609.5",
"protein_id": "ENSP00000423045.1",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2277,
"cds_start": 4591,
"cds_end": null,
"cds_length": 6834,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000512389.5",
"protein_id": "ENSP00000426261.1",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2273,
"cds_start": 4591,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000429973.6",
"protein_id": "ENSP00000414388.2",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2266,
"cds_start": 4591,
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"cds_length": 6801,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 7120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Met1508Val",
"transcript": "ENST00000360761.8",
"protein_id": "ENSP00000353990.4",
"transcript_support_level": 1,
"aa_start": 1508,
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"cds_start": 4522,
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"cdna_start": 4914,
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"cdna_length": 7497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000514181.5",
"protein_id": "ENSP00000425698.1",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2259,
"cds_start": 4591,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 6795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Met1508Val",
"transcript": "ENST00000352832.9",
"protein_id": "ENSP00000339302.5",
"transcript_support_level": 1,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2250,
"cds_start": 4522,
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"cdna_start": 4894,
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"cdna_length": 7848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Met1508Val",
"transcript": "ENST00000442258.6",
"protein_id": "ENSP00000409759.2",
"transcript_support_level": 1,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2243,
"cds_start": 4522,
"cds_end": null,
"cds_length": 6732,
"cdna_start": 4697,
"cdna_end": null,
"cdna_length": 7226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000505165.5",
"protein_id": "ENSP00000422268.1",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2205,
"cds_start": 4591,
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"cds_length": 6618,
"cdna_start": 4591,
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"cdna_length": 6633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4591A>G",
"hgvs_p": "p.Met1531Val",
"transcript": "ENST00000507896.5",
"protein_id": "ENSP00000421518.1",
"transcript_support_level": 1,
"aa_start": 1531,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Met1508Val",
"transcript": "ENST00000358244.9",
"protein_id": "ENSP00000350979.5",
"transcript_support_level": 1,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2171,
"cds_start": 4522,
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"cdna_start": 4522,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "n.4522A>G",
"hgvs_p": null,
"transcript": "ENST00000503436.5",
"protein_id": "ENSP00000427231.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "n.4522A>G",
"hgvs_p": null,
"transcript": "ENST00000503607.5",
"protein_id": "ENSP00000426558.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
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