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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: 5-88883309-GAGGAGGAGGAAGA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=88883309&ref=GAGGAGGAGGAAGA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 88883309,
"ref": "GAGGAGGAGGAAGA",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000437473.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "ENST00000437473.6",
"protein_id": "ENSP00000396219.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437473.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-143+4180_-143+4192delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "ENST00000340208.9",
"protein_id": "ENSP00000340874.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340208.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-143+4180_-143+4192delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "ENST00000424173.6",
"protein_id": "ENSP00000389610.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424173.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "ENST00000860115.1",
"protein_id": "ENSP00000530174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860115.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-510_-498delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "ENST00000860110.1",
"protein_id": "ENSP00000530169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-609_-597delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "ENST00000860120.1",
"protein_id": "ENSP00000530179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860120.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-510_-498delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "ENST00000944392.1",
"protein_id": "ENSP00000614451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": null,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "ENST00000944378.1",
"protein_id": "ENSP00000614437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": null,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944378.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_047417217.1",
"protein_id": "XP_047273173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417217.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_047417181.1",
"protein_id": "XP_047273137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417181.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-510_-498delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_047417182.1",
"protein_id": "XP_047273138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047417182.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_047417188.1",
"protein_id": "XP_047273144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047417188.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_047417190.1",
"protein_id": "XP_047273146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "MEF2C",
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"transcript": "XM_047417191.1",
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"biotype": "protein_coding",
"feature": "XM_047417191.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-609_-597delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_047417192.1",
"protein_id": "XP_047273148.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-606_-594delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_047417196.1",
"protein_id": "XP_047273152.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047417196.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_017009478.3",
"protein_id": "XP_016864967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017009478.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-510_-498delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_047417202.1",
"protein_id": "XP_047273158.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "MEF2C",
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"feature": "XM_047417203.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "MEF2C",
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"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
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"transcript": "XM_047417204.1",
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"feature": "XM_047417204.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-510_-498delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_047417205.1",
"protein_id": "XP_047273161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": 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": "XM_047417205.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
"hgvs_p": null,
"transcript": "XM_047417206.1",
"protein_id": "XP_047273162.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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{
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{
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{
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{
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"gene_symbol": "MEF2C-AS1",
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{
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],
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"gene_symbol": "MEF2C-AS1",
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{
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],
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"gene_symbol": "MEF2C-AS1",
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{
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"upstream_gene_variant"
],
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},
{
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"upstream_gene_variant"
],
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"gene_symbol": "MEF2C-AS1",
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"biotype": "pseudogene",
"feature": "NR_136219.1"
}
],
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"dbsnp": "rs1164925540",
"frequency_reference_population": 0.0020081908,
"hom_count_reference_population": 1,
"allele_count_reference_population": 305,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.00200819,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 305,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.71,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000437473.6",
"gene_symbol": "MEF2C",
"hgnc_id": 6996,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-507_-495delTCTTCCTCCTCCT",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000511100.5",
"gene_symbol": "MEF2C-AS1",
"hgnc_id": 48908,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-5_8delAGGAGGAGGAAGA",
"hgvs_p": null
}
],
"clinvar_disease": "MEF2C-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|MEF2C-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}