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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: 6-135431282-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=135431282&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 135431282,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001134831.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "NM_001134831.2",
"protein_id": "NP_001128303.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": "ENST00000265602.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000265602.11",
"protein_id": "ENSP00000265602.6",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": "NM_001134831.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000367800.8",
"protein_id": "ENSP00000356774.4",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000457866.6",
"protein_id": "ENSP00000388650.2",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000327035.10",
"protein_id": "ENSP00000322478.6",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.1351G>C",
"hgvs_p": "p.Val451Leu",
"transcript": "ENST00000367799.7",
"protein_id": "ENSP00000356773.3",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 845,
"cds_start": 1351,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "NM_001134830.2",
"protein_id": "NP_001128302.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 5916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "NM_001350503.2",
"protein_id": "NP_001337432.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2767,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "NM_017651.5",
"protein_id": "NP_060121.3",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000681022.1",
"protein_id": "ENSP00000505121.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 5249,
"cdna_end": null,
"cdna_length": 8779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000681340.1",
"protein_id": "ENSP00000505666.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
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"cdna_start": 2785,
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"cdna_length": 5303,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
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"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "AHI1",
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"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000681365.1",
"protein_id": "ENSP00000506604.1",
"transcript_support_level": null,
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"aa_end": null,
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"cdna_start": 3001,
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"feature": null
},
{
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"aa_alt": "L",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000681522.1",
"protein_id": "ENSP00000506005.1",
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},
{
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],
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"gene_symbol": "AHI1",
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},
{
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"consequences": [
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],
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"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000681670.1",
"protein_id": "ENSP00000504895.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": 17,
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"intron_rank": null,
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"gene_symbol": "AHI1",
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"hgvs_c": "c.2299G>C",
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"transcript": "NM_001350504.2",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000679925.1",
"protein_id": "ENSP00000505502.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000681756.1",
"protein_id": "ENSP00000506505.1",
"transcript_support_level": null,
"aa_start": 767,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
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"exon_count": 25,
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"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2146G>C",
"hgvs_p": "p.Val716Leu",
"transcript": "ENST00000681301.1",
"protein_id": "ENSP00000505093.1",
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},
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000679450.1",
"protein_id": "ENSP00000506494.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 16,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
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"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "NM_001134832.2",
"protein_id": "NP_001128304.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2299,
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"cdna_start": 2573,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Val767Leu",
"transcript": "XM_011535910.4",
"protein_id": "XP_011534212.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
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"cdna_start": 2829,
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"cdna_length": 6234,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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{
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],
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"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
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"computational_score_selected": 0.04192548990249634,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM1",
"PM2",
"BP4_Strong"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR,AD",
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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
}