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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-150898541-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150898541&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150898541,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001242614.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "NM_031462.4",
"protein_id": "NP_113650.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 262,
"cds_start": 48,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370377.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031462.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000370377.8",
"protein_id": "ENSP00000359403.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 262,
"cds_start": 48,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031462.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370377.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000466436.5",
"protein_id": "ENSP00000417697.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 213,
"cds_start": 48,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466436.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000355149.8",
"protein_id": "ENSP00000347275.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 190,
"cds_start": 48,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355149.8"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "n.48G>T",
"hgvs_p": null,
"transcript": "ENST00000346693.8",
"protein_id": "ENSP00000489222.1",
"transcript_support_level": 1,
"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": "ENST00000346693.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.-193G>T",
"hgvs_p": null,
"transcript": "XM_047442560.1",
"protein_id": "XP_047298516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.-283G>T",
"hgvs_p": null,
"transcript": "XM_047442562.1",
"protein_id": "XP_047298518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442562.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000954710.1",
"protein_id": "ENSP00000624769.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 300,
"cds_start": 48,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954710.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000954714.1",
"protein_id": "ENSP00000624773.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 280,
"cds_start": 48,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954714.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000881086.1",
"protein_id": "ENSP00000551145.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 278,
"cds_start": 48,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881086.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "NM_001242614.2",
"protein_id": "NP_001229543.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 272,
"cds_start": 48,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242614.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000954715.1",
"protein_id": "ENSP00000624774.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 267,
"cds_start": 48,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954715.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000881092.1",
"protein_id": "ENSP00000551151.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 260,
"cds_start": 48,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881092.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000954708.1",
"protein_id": "ENSP00000624767.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 249,
"cds_start": 48,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954708.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000954707.1",
"protein_id": "ENSP00000624766.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 239,
"cds_start": 48,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954707.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000881089.1",
"protein_id": "ENSP00000551148.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 238,
"cds_start": 48,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881089.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000954712.1",
"protein_id": "ENSP00000624771.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 219,
"cds_start": 48,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954712.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "NM_134446.4",
"protein_id": "NP_604395.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 213,
"cds_start": 48,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134446.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000881091.1",
"protein_id": "ENSP00000551150.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 211,
"cds_start": 48,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881091.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "ENST00000954709.1",
"protein_id": "ENSP00000624768.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 192,
"cds_start": 48,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954709.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "NM_134445.4",
"protein_id": "NP_604394.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 190,
"cds_start": 48,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134445.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Leu16Phe",
"transcript": "NM_001184808.2",
"protein_id": "NP_001171737.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 189,
"cds_start": 48,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
"gene_symbol": "CD99L2",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.372361958026886,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.5,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001242614.2",
"gene_symbol": "CD99L2",
"hgnc_id": 18237,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
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},
{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000786152.1",
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"effects": [
"intron_variant"
],
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}
],
"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
}