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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: 15-99690400-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=99690400&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 99690400,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001319206.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "NM_001319206.4",
"protein_id": "NP_001306135.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 505,
"cds_start": 830,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": "ENST00000557942.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "ENST00000557942.6",
"protein_id": "ENSP00000453095.1",
"transcript_support_level": 5,
"aa_start": 277,
"aa_end": null,
"aa_length": 505,
"cds_start": 830,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": "NM_001319206.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000354410.9",
"protein_id": "ENSP00000346389.5",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 499,
"cds_start": 836,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 5824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Pro323Leu",
"transcript": "NM_001400028.1",
"protein_id": "NP_001386957.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 543,
"cds_start": 968,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 5694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "NM_001365201.3",
"protein_id": "NP_001352130.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 511,
"cds_start": 848,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "NM_001365202.3",
"protein_id": "NP_001352131.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 511,
"cds_start": 848,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000338042.11",
"protein_id": "ENSP00000337202.8",
"transcript_support_level": 2,
"aa_start": 283,
"aa_end": null,
"aa_length": 511,
"cds_start": 848,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000690055.1",
"protein_id": "ENSP00000509700.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 511,
"cds_start": 848,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Pro283Leu",
"transcript": "ENST00000705985.1",
"protein_id": "ENSP00000516195.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 511,
"cds_start": 848,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "NM_001365203.3",
"protein_id": "NP_001352132.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 507,
"cds_start": 836,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "NM_001365204.3",
"protein_id": "NP_001352133.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 507,
"cds_start": 836,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 5504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "NM_001400029.1",
"protein_id": "NP_001386958.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 507,
"cds_start": 836,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "NM_001400030.1",
"protein_id": "NP_001386959.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 507,
"cds_start": 836,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000686611.1",
"protein_id": "ENSP00000509137.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 507,
"cds_start": 836,
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"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "NM_001352616.4",
"protein_id": "NP_001339545.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 505,
"cds_start": 830,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "NM_001365205.3",
"protein_id": "NP_001352134.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 505,
"cds_start": 830,
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"cdna_start": 1093,
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"cdna_length": 5498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "NM_001400031.1",
"protein_id": "NP_001386960.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 505,
"cds_start": 830,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 5619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "NM_001400032.1",
"protein_id": "NP_001386961.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 505,
"cds_start": 830,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "NM_001400033.1",
"protein_id": "NP_001386962.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
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"cds_start": 830,
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"cdna_start": 1198,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "NM_001400034.1",
"protein_id": "NP_001386963.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 505,
"cds_start": 830,
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"cdna_start": 1171,
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"cdna_length": 5576,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "NM_001400035.1",
"protein_id": "NP_001386964.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 505,
"cds_start": 830,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 5685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "NM_001400036.1",
"protein_id": "NP_001386965.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 505,
"cds_start": 830,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 5630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
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}