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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: 18-23601294-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23601294&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23601294,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_173505.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.838G>T",
"hgvs_p": "p.Ala280Ser",
"transcript": "NM_173505.4",
"protein_id": "NP_775776.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 301,
"cds_start": 838,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000592179.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173505.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.838G>T",
"hgvs_p": "p.Ala280Ser",
"transcript": "ENST00000592179.6",
"protein_id": "ENSP00000468354.1",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 301,
"cds_start": 838,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173505.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592179.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Ala248Ser",
"transcript": "ENST00000965701.1",
"protein_id": "ENSP00000635760.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 269,
"cds_start": 742,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965701.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.739G>T",
"hgvs_p": "p.Ala247Ser",
"transcript": "NM_001308238.2",
"protein_id": "NP_001295167.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 268,
"cds_start": 739,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308238.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.739G>T",
"hgvs_p": "p.Ala247Ser",
"transcript": "ENST00000322980.13",
"protein_id": "ENSP00000323387.9",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 268,
"cds_start": 739,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322980.13"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.739G>T",
"hgvs_p": "p.Ala247Ser",
"transcript": "ENST00000863695.1",
"protein_id": "ENSP00000533754.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 268,
"cds_start": 739,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863695.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.739G>T",
"hgvs_p": "p.Ala247Ser",
"transcript": "ENST00000863696.1",
"protein_id": "ENSP00000533755.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 268,
"cds_start": 739,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863696.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.739G>T",
"hgvs_p": "p.Ala247Ser",
"transcript": "ENST00000863698.1",
"protein_id": "ENSP00000533757.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 268,
"cds_start": 739,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863698.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.739G>T",
"hgvs_p": "p.Ala247Ser",
"transcript": "ENST00000863700.1",
"protein_id": "ENSP00000533759.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 268,
"cds_start": 739,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863700.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.727G>T",
"hgvs_p": "p.Ala243Ser",
"transcript": "ENST00000863697.1",
"protein_id": "ENSP00000533756.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 264,
"cds_start": 727,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863697.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.643G>T",
"hgvs_p": "p.Ala215Ser",
"transcript": "ENST00000965702.1",
"protein_id": "ENSP00000635761.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 236,
"cds_start": 643,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965702.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.640G>T",
"hgvs_p": "p.Ala214Ser",
"transcript": "ENST00000863701.1",
"protein_id": "ENSP00000533760.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 235,
"cds_start": 640,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863701.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.640G>T",
"hgvs_p": "p.Ala214Ser",
"transcript": "ENST00000863704.1",
"protein_id": "ENSP00000533763.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 235,
"cds_start": 640,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863704.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.640G>T",
"hgvs_p": "p.Ala214Ser",
"transcript": "ENST00000863705.1",
"protein_id": "ENSP00000533764.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 235,
"cds_start": 640,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863705.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.640G>T",
"hgvs_p": "p.Ala214Ser",
"transcript": "ENST00000965698.1",
"protein_id": "ENSP00000635757.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 235,
"cds_start": 640,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965698.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.640G>T",
"hgvs_p": "p.Ala214Ser",
"transcript": "ENST00000965700.1",
"protein_id": "ENSP00000635759.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 235,
"cds_start": 640,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965700.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.544G>T",
"hgvs_p": "p.Ala182Ser",
"transcript": "ENST00000863706.1",
"protein_id": "ENSP00000533765.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 203,
"cds_start": 544,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863706.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000863702.1",
"protein_id": "ENSP00000533761.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 202,
"cds_start": 541,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863702.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000863703.1",
"protein_id": "ENSP00000533762.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 202,
"cds_start": 541,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863703.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000863707.1",
"protein_id": "ENSP00000533766.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 202,
"cds_start": 541,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863707.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Ala149Ser",
"transcript": "ENST00000965699.1",
"protein_id": "ENSP00000635758.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 170,
"cds_start": 445,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965699.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.430G>T",
"hgvs_p": "p.Ala144Ser",
"transcript": "ENST00000965703.1",
"protein_id": "ENSP00000635762.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 165,
"cds_start": 430,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965703.1"
},
{
"aa_ref": "A",
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"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.093,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.24,
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"acmg_by_gene": [
{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}