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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: 12-49005079-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=49005079&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 49005079,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000548065.7",
"consequences": [
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.355+41C>A",
"hgvs_p": null,
"transcript": "NM_002733.5",
"protein_id": "NP_002724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": "ENST00000548065.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.355+41C>A",
"hgvs_p": null,
"transcript": "ENST00000548065.7",
"protein_id": "ENSP00000447433.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": "NM_002733.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288710",
"gene_hgnc_id": null,
"hgvs_c": "n.*422+41C>A",
"hgvs_p": null,
"transcript": "ENST00000683988.1",
"protein_id": "ENSP00000506939.1",
"transcript_support_level": null,
"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": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.382+41C>A",
"hgvs_p": null,
"transcript": "NM_001206709.2",
"protein_id": "NP_001193638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.382+41C>A",
"hgvs_p": null,
"transcript": "ENST00000316299.9",
"protein_id": "ENSP00000323867.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.259+41C>A",
"hgvs_p": null,
"transcript": "NM_001206710.2",
"protein_id": "NP_001193639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": -4,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.259+41C>A",
"hgvs_p": null,
"transcript": "ENST00000552212.5",
"protein_id": "ENSP00000448972.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": -4,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.202+41C>A",
"hgvs_p": null,
"transcript": "ENST00000547306.5",
"protein_id": "ENSP00000448873.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.280+41C>A",
"hgvs_p": null,
"transcript": "ENST00000551770.5",
"protein_id": "ENSP00000449121.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.202+41C>A",
"hgvs_p": null,
"transcript": "ENST00000551696.5",
"protein_id": "ENSP00000447671.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.259+41C>A",
"hgvs_p": null,
"transcript": "ENST00000551121.5",
"protein_id": "ENSP00000449637.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": -4,
"cds_end": null,
"cds_length": 484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.103+41C>A",
"hgvs_p": null,
"transcript": "ENST00000548950.5",
"protein_id": "ENSP00000450112.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "c.259+41C>A",
"hgvs_p": null,
"transcript": "ENST00000552463.5",
"protein_id": "ENSP00000448251.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "n.*155+41C>A",
"hgvs_p": null,
"transcript": "ENST00000546531.5",
"protein_id": "ENSP00000447637.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "DDN-AS1",
"gene_hgnc_id": 53464,
"hgvs_c": "n.294-4230G>T",
"hgvs_p": null,
"transcript": "ENST00000547395.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDN-AS1",
"gene_hgnc_id": 53464,
"hgvs_c": "n.319+6389G>T",
"hgvs_p": null,
"transcript": "ENST00000547866.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "n.379+41C>A",
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"transcript": "ENST00000549726.5",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "n.377+41C>A",
"hgvs_p": null,
"transcript": "ENST00000550125.5",
"protein_id": null,
"transcript_support_level": 5,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAG1",
"gene_hgnc_id": 9385,
"hgvs_c": "n.379+41C>A",
"hgvs_p": null,
"transcript": "ENST00000550448.5",
"protein_id": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDN-AS1",
"gene_hgnc_id": 53464,
"hgvs_c": "n.315-4236G>T",
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"transcript": "ENST00000552284.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "PRKAG1",
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"hgvs_c": "n.473+41C>A",
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"transcript": "ENST00000552793.5",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDN-AS1",
"gene_hgnc_id": 53464,
"hgvs_c": "n.324+6389G>T",
"hgvs_p": null,
"transcript": "ENST00000552933.3",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDN-AS1",
"gene_hgnc_id": 53464,
"hgvs_c": "n.345-4230G>T",
"hgvs_p": null,
"transcript": "NR_147178.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1430,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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{
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}
],
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}