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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: 5-88722819-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=88722819&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 88722819,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000504921.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1207A>T",
"hgvs_p": "p.Thr403Ser",
"transcript": "NM_002397.5",
"protein_id": "NP_002388.2",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 473,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": "ENST00000504921.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1207A>T",
"hgvs_p": "p.Thr403Ser",
"transcript": "ENST00000504921.7",
"protein_id": "ENSP00000421925.5",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 473,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": "NM_002397.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1237A>T",
"hgvs_p": "p.Thr413Ser",
"transcript": "ENST00000340208.9",
"protein_id": "ENSP00000340874.5",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 483,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1207A>T",
"hgvs_p": "p.Thr403Ser",
"transcript": "ENST00000437473.6",
"protein_id": "ENSP00000396219.2",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 473,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1177A>T",
"hgvs_p": "p.Thr393Ser",
"transcript": "ENST00000424173.6",
"protein_id": "ENSP00000389610.2",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 463,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1039A>T",
"hgvs_p": "p.Thr347Ser",
"transcript": "ENST00000628656.2",
"protein_id": "ENSP00000487311.1",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 417,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.967A>T",
"hgvs_p": "p.Thr323Ser",
"transcript": "ENST00000626391.2",
"protein_id": "ENSP00000487184.1",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 393,
"cds_start": 967,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1237A>T",
"hgvs_p": "p.Thr413Ser",
"transcript": "NM_001193347.1",
"protein_id": "NP_001180276.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 483,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1207A>T",
"hgvs_p": "p.Thr403Ser",
"transcript": "NM_001193350.2",
"protein_id": "NP_001180279.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 473,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 7278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1207A>T",
"hgvs_p": "p.Thr403Ser",
"transcript": "NM_001364329.2",
"protein_id": "NP_001351258.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 473,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 7470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1207A>T",
"hgvs_p": "p.Thr403Ser",
"transcript": "NM_001364330.2",
"protein_id": "NP_001351259.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 473,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 7473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1207A>T",
"hgvs_p": "p.Thr403Ser",
"transcript": "NM_001364331.2",
"protein_id": "NP_001351260.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 473,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 7377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1207A>T",
"hgvs_p": "p.Thr403Ser",
"transcript": "ENST00000636294.1",
"protein_id": "ENSP00000490473.1",
"transcript_support_level": 5,
"aa_start": 403,
"aa_end": null,
"aa_length": 473,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1201A>T",
"hgvs_p": "p.Thr401Ser",
"transcript": "ENST00000625585.2",
"protein_id": "ENSP00000487538.1",
"transcript_support_level": 5,
"aa_start": 401,
"aa_end": null,
"aa_length": 471,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1183A>T",
"hgvs_p": "p.Thr395Ser",
"transcript": "NM_001308002.3",
"protein_id": "NP_001294931.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 465,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 7257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1183A>T",
"hgvs_p": "p.Thr395Ser",
"transcript": "NM_001364333.2",
"protein_id": "NP_001351262.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 465,
"cds_start": 1183,
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"cdna_start": 1552,
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"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1183A>T",
"hgvs_p": "p.Thr395Ser",
"transcript": "ENST00000508569.5",
"protein_id": "ENSP00000423597.2",
"transcript_support_level": 5,
"aa_start": 395,
"aa_end": null,
"aa_length": 465,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1183A>T",
"hgvs_p": "p.Thr395Ser",
"transcript": "ENST00000629612.2",
"protein_id": "ENSP00000486554.1",
"transcript_support_level": 5,
"aa_start": 395,
"aa_end": null,
"aa_length": 465,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1177A>T",
"hgvs_p": "p.Thr393Ser",
"transcript": "NM_001131005.2",
"protein_id": "NP_001124477.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 463,
"cds_start": 1177,
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"cdna_start": 1606,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1177A>T",
"hgvs_p": "p.Thr393Ser",
"transcript": "ENST00000625674.2",
"protein_id": "ENSP00000487430.1",
"transcript_support_level": 5,
"aa_start": 393,
"aa_end": null,
"aa_length": 463,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1174A>T",
"hgvs_p": "p.Thr392Ser",
"transcript": "ENST00000637481.1",
"protein_id": "ENSP00000490354.1",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 462,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1141A>T",
"hgvs_p": "p.Thr381Ser",
"transcript": "NM_001364338.2",
"protein_id": "NP_001351267.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 451,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
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}