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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: 6-139243057-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=139243057&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 139243057,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_153235.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "c.1524G>A",
"hgvs_p": "p.Met508Ile",
"transcript": "NM_153235.4",
"protein_id": "NP_694967.3",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 684,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358430.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153235.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "c.1524G>A",
"hgvs_p": "p.Met508Ile",
"transcript": "ENST00000358430.8",
"protein_id": "ENSP00000351206.3",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 684,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153235.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358430.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "c.1524G>A",
"hgvs_p": "p.Met508Ile",
"transcript": "XM_005266836.2",
"protein_id": "XP_005266893.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 684,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266836.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "c.1524G>A",
"hgvs_p": "p.Met508Ile",
"transcript": "XM_024446341.2",
"protein_id": "XP_024302109.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 684,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446341.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "c.1524G>A",
"hgvs_p": "p.Met508Ile",
"transcript": "XM_047418252.1",
"protein_id": "XP_047274208.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 684,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418252.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "c.1524G>A",
"hgvs_p": "p.Met508Ile",
"transcript": "XM_047418253.1",
"protein_id": "XP_047274209.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 684,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418253.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "c.1080G>A",
"hgvs_p": "p.Met360Ile",
"transcript": "XM_011535506.3",
"protein_id": "XP_011533808.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 536,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535506.3"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293614",
"gene_hgnc_id": null,
"hgvs_c": "n.171+1538G>A",
"hgvs_p": null,
"transcript": "ENST00000715941.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000715941.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "n.*607-3800G>A",
"hgvs_p": null,
"transcript": "ENST00000715942.1",
"protein_id": "ENSP00000520544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715942.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "n.769+1538G>A",
"hgvs_p": null,
"transcript": "ENST00000715943.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000715943.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "n.942+1538G>A",
"hgvs_p": null,
"transcript": "ENST00000715944.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000715944.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "TXLNB",
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"hgvs_c": "n.444+1538G>A",
"hgvs_p": null,
"transcript": "ENST00000715945.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000715945.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ENSG00000226571",
"gene_hgnc_id": null,
"hgvs_c": "n.144+3701C>T",
"hgvs_p": null,
"transcript": "ENST00000775572.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "ENSG00000226571",
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},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ENSG00000226571",
"gene_hgnc_id": null,
"hgvs_c": "n.274+1408C>T",
"hgvs_p": null,
"transcript": "ENST00000775579.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000775579.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000226571",
"gene_hgnc_id": null,
"hgvs_c": "n.197+3701C>T",
"hgvs_p": null,
"transcript": "ENST00000775584.1",
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"feature": "ENST00000775584.1"
},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226571",
"gene_hgnc_id": null,
"hgvs_c": "n.264+1408C>T",
"hgvs_p": null,
"transcript": "ENST00000775585.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000775585.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "n.1737+1538G>A",
"hgvs_p": null,
"transcript": "XR_007059216.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": false,
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],
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},
{
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"strand": false,
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],
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"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
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},
{
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"protein_coding": false,
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"consequences": [
"intron_variant"
],
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"gene_symbol": "TXLNB",
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"transcript": "XR_007059219.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059219.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"hgvs_c": "n.1737+1538G>A",
"hgvs_p": null,
"transcript": "XR_007059220.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059220.1"
}
],
"gene_symbol": "TXLNB",
"gene_hgnc_id": 21617,
"dbsnp": "rs755556059",
"frequency_reference_population": 0.00015984873,
"hom_count_reference_population": 1,
"allele_count_reference_population": 258,
"gnomad_exomes_af": 0.000168275,
"gnomad_genomes_af": 0.0000788778,
"gnomad_exomes_ac": 246,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05012267827987671,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.3174,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.933,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_153235.4",
"gene_symbol": "TXLNB",
"hgnc_id": 21617,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1524G>A",
"hgvs_p": "p.Met508Ile"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000715941.1",
"gene_symbol": "ENSG00000293614",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.171+1538G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000775572.1",
"gene_symbol": "ENSG00000226571",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.144+3701C>T",
"hgvs_p": null
}
],
"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
}