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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-145822865-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=145822865&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 145822865,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032539.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "NM_032539.5",
"protein_id": "NP_115928.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 8421,
"mane_select": "ENST00000335565.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032539.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000335565.6",
"protein_id": "ENSP00000334374.5",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 8421,
"mane_select": "NM_032539.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335565.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "NM_001144003.3",
"protein_id": "NP_001137475.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 7938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144003.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "NM_001144004.3",
"protein_id": "NP_001137476.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144004.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "NM_001144005.3",
"protein_id": "NP_001137477.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 7948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144005.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "NM_001144006.2",
"protein_id": "NP_001137478.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144006.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "NM_001144008.2",
"protein_id": "NP_001137480.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144008.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "NM_001144009.2",
"protein_id": "NP_001137481.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144009.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "NM_001144010.2",
"protein_id": "NP_001137482.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144010.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000370490.1",
"protein_id": "ENSP00000359521.1",
"transcript_support_level": 6,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 4695,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370490.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000867861.1",
"protein_id": "ENSP00000537920.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867861.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000867862.1",
"protein_id": "ENSP00000537921.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867862.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000867863.1",
"protein_id": "ENSP00000537922.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867863.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000867864.1",
"protein_id": "ENSP00000537923.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867864.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000867865.1",
"protein_id": "ENSP00000537924.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 4868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867865.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000867866.1",
"protein_id": "ENSP00000537925.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 4809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867866.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000867867.1",
"protein_id": "ENSP00000537926.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867867.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000867868.1",
"protein_id": "ENSP00000537927.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
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"cds_length": 2538,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 3817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867868.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000867869.1",
"protein_id": "ENSP00000537928.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 3787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867869.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000966678.1",
"protein_id": "ENSP00000636737.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966678.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000966679.1",
"protein_id": "ENSP00000636738.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966679.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK2",
"gene_hgnc_id": 13449,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Ser147Ile",
"transcript": "ENST00000966680.1",
"protein_id": "ENSP00000636739.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 845,
"cds_start": 440,
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{
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{
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],
"gene_symbol": "SLITRK2",
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"dbsnp": "rs1556943954",
"frequency_reference_population": 0.000002481993,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000182147,
"gnomad_genomes_af": 0.00000903391,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8292115926742554,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.383,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2245,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
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"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032539.5",
"gene_symbol": "SLITRK2",
"hgnc_id": 13449,
"effects": [
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],
"inheritance_mode": "XL",
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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
}