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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: X-48898533-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48898533&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48898533,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001032382.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "NM_001032382.2",
"protein_id": "NP_001027554.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": "ENST00000447146.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "ENST00000447146.7",
"protein_id": "ENSP00000391759.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": "NM_001032382.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "ENST00000218224.9",
"protein_id": "ENSP00000218224.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "n.24G>T",
"hgvs_p": null,
"transcript": "ENST00000463529.4",
"protein_id": null,
"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": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "n.449G>T",
"hgvs_p": null,
"transcript": "ENST00000473764.6",
"protein_id": null,
"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": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "n.205G>T",
"hgvs_p": null,
"transcript": "ENST00000474671.6",
"protein_id": null,
"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": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "n.131G>T",
"hgvs_p": null,
"transcript": "ENST00000477997.6",
"protein_id": null,
"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": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "NM_001032381.2",
"protein_id": "NP_001027553.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "NM_001032383.2",
"protein_id": "NP_001027555.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "NM_001032384.1",
"protein_id": "NP_001027556.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 133,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "NM_005710.2",
"protein_id": "NP_005701.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "ENST00000376563.6",
"protein_id": "ENSP00000365747.1",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 105,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "ENST00000396763.6",
"protein_id": "ENSP00000379985.1",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "ENST00000443648.6",
"protein_id": "ENSP00000414861.2",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 84,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "ENST00000651767.1",
"protein_id": "ENSP00000498362.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "NM_001167989.2",
"protein_id": "NP_001161461.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 264,
"cds_start": 24,
"cds_end": null,
"cds_length": 795,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "NM_001167990.2",
"protein_id": "NP_001161462.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 257,
"cds_start": 24,
"cds_end": null,
"cds_length": 774,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "NM_001437502.1",
"protein_id": "NP_001424431.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 170,
"cds_start": 24,
"cds_end": null,
"cds_length": 513,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "NM_144495.3",
"protein_id": "NP_652766.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 170,
"cds_start": 24,
"cds_end": null,
"cds_length": 513,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "ENST00000247140.8",
"protein_id": "ENSP00000247140.4",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 170,
"cds_start": 24,
"cds_end": null,
"cds_length": 513,
"cdna_start": 117,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "ENST00000376566.8",
"protein_id": "ENSP00000365750.4",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 170,
"cds_start": 24,
"cds_end": null,
"cds_length": 513,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "NM_001167992.1",
"protein_id": "NP_001161464.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 165,
"cds_start": 24,
"cds_end": null,
"cds_length": 498,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.24G>T",
"hgvs_p": "p.Gln8His",
"transcript": "XM_011543884.3",
"protein_id": "XP_011542186.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 265,
"cds_start": 24,
"cds_end": null,
"cds_length": 798,
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}
],
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
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"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.24,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001032382.2",
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],
"inheritance_mode": "XL",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}