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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: 1-173803163-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173803163&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 173803163,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387287.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "NM_001387287.1",
"protein_id": "NP_001374216.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 344,
"cds_start": 763,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": "ENST00000682279.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "ENST00000682279.1",
"protein_id": "ENSP00000507473.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 344,
"cds_start": 763,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": "NM_001387287.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Ala301Thr",
"transcript": "ENST00000356198.6",
"protein_id": "ENSP00000348527.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 390,
"cds_start": 901,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "ENST00000345664.10",
"protein_id": "ENSP00000323543.7",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 344,
"cds_start": 763,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "ENST00000367710.7",
"protein_id": "ENSP00000356683.3",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 344,
"cds_start": 763,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Ala301Thr",
"transcript": "NM_001127181.3",
"protein_id": "NP_001120653.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 390,
"cds_start": 901,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Ala301Thr",
"transcript": "NM_001387284.1",
"protein_id": "NP_001374213.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 390,
"cds_start": 901,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Ala301Thr",
"transcript": "NM_001387285.1",
"protein_id": "NP_001374214.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 390,
"cds_start": 901,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Ala301Thr",
"transcript": "NM_001387286.1",
"protein_id": "NP_001374215.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 390,
"cds_start": 901,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "NM_001171182.2",
"protein_id": "NP_001164653.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 344,
"cds_start": 763,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "NM_001387288.1",
"protein_id": "NP_001374217.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 344,
"cds_start": 763,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "NM_001387289.1",
"protein_id": "NP_001374218.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 344,
"cds_start": 763,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "NM_001387290.1",
"protein_id": "NP_001374219.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 344,
"cds_start": 763,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "NM_033319.4",
"protein_id": "NP_201576.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 344,
"cds_start": 763,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Ala233Thr",
"transcript": "NM_001387291.1",
"protein_id": "NP_001374220.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 322,
"cds_start": 697,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 2640,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "n.656G>A",
"hgvs_p": null,
"transcript": "ENST00000484920.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 856,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "n.1094G>A",
"hgvs_p": null,
"transcript": "ENST00000496683.5",
"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": 1486,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "n.1638G>A",
"hgvs_p": null,
"transcript": "NR_170626.1",
"protein_id": null,
"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": 2808,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "n.1654G>A",
"hgvs_p": null,
"transcript": "NR_170627.1",
"protein_id": null,
"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": 2824,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "n.1219G>A",
"hgvs_p": null,
"transcript": "NR_170628.1",
"protein_id": null,
"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": 2389,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "n.1654G>A",
"hgvs_p": null,
"transcript": "NR_170629.1",
"protein_id": null,
"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": 2824,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.421-2644G>A",
"hgvs_p": null,
"transcript": "NM_001387292.1",
"protein_id": "NP_001374221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": -4,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2163,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "c.421-2644G>A",
"hgvs_p": null,
"transcript": "NM_001387293.1",
"protein_id": "NP_001374222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": -4,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"hgvs_c": "n.720-2644G>A",
"hgvs_p": null,
"transcript": "ENST00000460816.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CENPL",
"gene_hgnc_id": 17879,
"dbsnp": "rs779634048",
"frequency_reference_population": 0.000025411007,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000246335,
"gnomad_genomes_af": 0.0000328844,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06981250643730164,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.1231,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.529,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001387287.1",
"gene_symbol": "CENPL",
"hgnc_id": 17879,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}