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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: 17-46067549-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46067549&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46067549,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_015443.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "NM_015443.4",
"protein_id": "NP_056258.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000432791.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015443.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "ENST00000432791.7",
"protein_id": "ENSP00000387393.3",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015443.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432791.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "ENST00000262419.10",
"protein_id": "ENSP00000262419.6",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262419.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "ENST00000918919.1",
"protein_id": "ENSP00000588978.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1122,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918919.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "NM_001193466.2",
"protein_id": "NP_001180395.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193466.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "NM_001379198.1",
"protein_id": "NP_001366127.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379198.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "NM_001405854.1",
"protein_id": "NP_001392783.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405854.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "NM_001405855.1",
"protein_id": "NP_001392784.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405855.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "ENST00000572904.6",
"protein_id": "ENSP00000461484.1",
"transcript_support_level": 5,
"aa_start": 551,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572904.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "NM_001193465.2",
"protein_id": "NP_001180394.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193465.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "NM_001405856.1",
"protein_id": "NP_001392785.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405856.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "NM_001405857.1",
"protein_id": "NP_001392786.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405857.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "NM_001405858.1",
"protein_id": "NP_001392787.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405858.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "ENST00000574590.6",
"protein_id": "ENSP00000461812.2",
"transcript_support_level": 2,
"aa_start": 551,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574590.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "ENST00000902802.1",
"protein_id": "ENSP00000572861.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902802.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Thr551Ile",
"transcript": "ENST00000902804.1",
"protein_id": "ENSP00000572863.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1652,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902804.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1643C>T",
"hgvs_p": "p.Thr548Ile",
"transcript": "ENST00000902805.1",
"protein_id": "ENSP00000572864.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1643,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902805.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Thr517Ile",
"transcript": "NM_001405859.1",
"protein_id": "NP_001392788.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1071,
"cds_start": 1550,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405859.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Thr517Ile",
"transcript": "NM_001405860.1",
"protein_id": "NP_001392789.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1071,
"cds_start": 1550,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405860.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Thr517Ile",
"transcript": "ENST00000902801.1",
"protein_id": "ENSP00000572860.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1071,
"cds_start": 1550,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902801.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Thr517Ile",
"transcript": "ENST00000902803.1",
"protein_id": "ENSP00000572862.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1071,
"cds_start": 1550,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902803.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
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{
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{
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],
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.013761758804321289,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.0820000022649765,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.032,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.157,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0082364930768506,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015443.4",
"gene_symbol": "KANSL1",
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"effects": [
"missense_variant",
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"hgvs_c": "c.1652C>T",
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],
"clinvar_disease": "Koolen-de Vries syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2",
"phenotype_combined": "Koolen-de Vries syndrome|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}