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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: 10-34450347-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=34450347&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 34450347,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_019619.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "NM_001184785.2",
"protein_id": "NP_001171714.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1353,
"cds_start": 684,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374788.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184785.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000374788.8",
"protein_id": "ENSP00000363920.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 1353,
"cds_start": 684,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001184785.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374788.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000374789.8",
"protein_id": "ENSP00000363921.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 1356,
"cds_start": 684,
"cds_end": null,
"cds_length": 4071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374789.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000545693.5",
"protein_id": "ENSP00000443147.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 1340,
"cds_start": 684,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545693.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000346874.9",
"protein_id": "ENSP00000340591.4",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 1319,
"cds_start": 684,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346874.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000350537.9",
"protein_id": "ENSP00000311986.6",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 1310,
"cds_start": 684,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350537.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000340077.9",
"protein_id": "ENSP00000341844.5",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 1031,
"cds_start": 684,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340077.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000374776.6",
"protein_id": "ENSP00000363908.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 988,
"cds_start": 684,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374776.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.582+19738G>T",
"hgvs_p": null,
"transcript": "ENST00000545260.5",
"protein_id": "ENSP00000440857.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1266,
"cds_start": null,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545260.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.582+19738G>T",
"hgvs_p": null,
"transcript": "ENST00000374794.8",
"protein_id": "ENSP00000363926.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": null,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374794.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "NM_019619.4",
"protein_id": "NP_062565.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1356,
"cds_start": 684,
"cds_end": null,
"cds_length": 4071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019619.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000926311.1",
"protein_id": "ENSP00000596370.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1355,
"cds_start": 684,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926311.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000926300.1",
"protein_id": "ENSP00000596359.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1352,
"cds_start": 684,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926300.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000926315.1",
"protein_id": "ENSP00000596374.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1343,
"cds_start": 684,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926315.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000963016.1",
"protein_id": "ENSP00000633075.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1342,
"cds_start": 684,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963016.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "NM_001184786.2",
"protein_id": "NP_001171715.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1340,
"cds_start": 684,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184786.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000963011.1",
"protein_id": "ENSP00000633070.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1340,
"cds_start": 684,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963011.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000926302.1",
"protein_id": "ENSP00000596361.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1339,
"cds_start": 684,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926302.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000963004.1",
"protein_id": "ENSP00000633063.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
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"cds_start": 684,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963004.1"
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.603G>T",
"hgvs_p": "p.Met201Ile",
"transcript": "ENST00000696673.1",
"protein_id": "ENSP00000512797.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
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"cds_start": 603,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696673.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000963005.1",
"protein_id": "ENSP00000633064.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1328,
"cds_start": 684,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963005.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.684G>T",
"hgvs_p": "p.Met228Ile",
"transcript": "ENST00000963010.1",
"protein_id": "ENSP00000633069.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1326,
"cds_start": 684,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
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"cdna_length": null,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.4504055976867676,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.251,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019619.4",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Met228Ile"
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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
}