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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: 12-50200825-ATTCTCCTT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50200825&ref=ATTCTCCTT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50200825,
"ref": "ATTCTCCTT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000341247.9",
"consequences": [
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs",
"transcript": "NM_016357.5",
"protein_id": "NP_057441.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 759,
"cds_start": 916,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": "ENST00000341247.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs",
"transcript": "ENST00000341247.9",
"protein_id": "ENSP00000340184.4",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 759,
"cds_start": 916,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": "NM_016357.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs",
"transcript": "ENST00000394943.7",
"protein_id": "ENSP00000378400.3",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 760,
"cds_start": 916,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.436_443delAAGGAGAA",
"hgvs_p": "p.Lys146fs",
"transcript": "ENST00000552783.5",
"protein_id": "ENSP00000448779.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 600,
"cds_start": 436,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.436_443delAAGGAGAA",
"hgvs_p": "p.Lys146fs",
"transcript": "ENST00000552909.5",
"protein_id": "ENSP00000450087.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 598,
"cds_start": 436,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.10_17delAAGGAGAA",
"hgvs_p": "p.Lys4fs",
"transcript": "ENST00000547825.5",
"protein_id": "ENSP00000448706.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 457,
"cds_start": 10,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "n.916_923delAAGGAGAA",
"hgvs_p": null,
"transcript": "ENST00000552720.5",
"protein_id": "ENSP00000448411.1",
"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": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs",
"transcript": "NM_001113546.2",
"protein_id": "NP_001107018.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 760,
"cds_start": 916,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs",
"transcript": "NM_001394886.1",
"protein_id": "NP_001381815.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 760,
"cds_start": 916,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs",
"transcript": "NM_001394887.1",
"protein_id": "NP_001381816.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 759,
"cds_start": 916,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs",
"transcript": "NM_001394888.1",
"protein_id": "NP_001381817.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 759,
"cds_start": 916,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs",
"transcript": "NM_001394889.1",
"protein_id": "NP_001381818.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 759,
"cds_start": 916,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs",
"transcript": "NM_001394890.1",
"protein_id": "NP_001381819.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 758,
"cds_start": 916,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs",
"transcript": "NM_001394891.1",
"protein_id": "NP_001381820.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 742,
"cds_start": 916,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.682_689delAAGGAGAA",
"hgvs_p": "p.Lys228fs",
"transcript": "NM_001394892.1",
"protein_id": "NP_001381821.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 682,
"cds_start": 682,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.643_650delAAGGAGAA",
"hgvs_p": "p.Lys215fs",
"transcript": "NM_001394893.1",
"protein_id": "NP_001381822.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 668,
"cds_start": 643,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.436_443delAAGGAGAA",
"hgvs_p": "p.Lys146fs",
"transcript": "NM_001113547.2",
"protein_id": "NP_001107019.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 600,
"cds_start": 436,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.436_443delAAGGAGAA",
"hgvs_p": "p.Lys146fs",
"transcript": "ENST00000552823.5",
"protein_id": "ENSP00000450266.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 599,
"cds_start": 436,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.10_17delAAGGAGAA",
"hgvs_p": "p.Lys4fs",
"transcript": "NM_001243775.2",
"protein_id": "NP_001230704.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 457,
"cds_start": 10,
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"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.10_17delAAGGAGAA",
"hgvs_p": "p.Lys4fs",
"transcript": "ENST00000552491.5",
"protein_id": "ENSP00000448463.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 456,
"cds_start": 10,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KEN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "c.676_683delAAGGAGAA",
"hgvs_p": "p.Lys226fs",
"transcript": "XM_047428969.1",
"protein_id": "XP_047284925.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 679,
"cds_start": 676,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "n.342_349delAAGGAGAA",
"hgvs_p": null,
"transcript": "ENST00000552008.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"hgvs_c": "n.60_67delAAGGAGAA",
"hgvs_p": null,
"transcript": "ENST00000552045.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LIMA1",
"gene_hgnc_id": 24636,
"dbsnp": "rs1555205375",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"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": 4.689,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000341247.9",
"gene_symbol": "LIMA1",
"hgnc_id": 24636,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.916_923delAAGGAGAA",
"hgvs_p": "p.Lys306fs"
}
],
"clinvar_disease": "LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8",
"clinvar_classification": "association",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8",
"pathogenicity_classification_combined": "association",
"custom_annotations": null
}
],
"message": null
}