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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: 6-10749657-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=10749657&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 10749657,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286488.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_030969.5",
"protein_id": "NP_112231.3",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379542.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030969.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000379542.10",
"protein_id": "ENSP00000368858.5",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030969.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379542.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "n.59C>T",
"hgvs_p": null,
"transcript": "ENST00000463448.5",
"protein_id": "ENSP00000419208.1",
"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": "ENST00000463448.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272162",
"gene_hgnc_id": null,
"hgvs_c": "n.59C>T",
"hgvs_p": null,
"transcript": "ENST00000480294.1",
"protein_id": "ENSP00000417929.1",
"transcript_support_level": 2,
"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": "ENST00000480294.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_001286488.2",
"protein_id": "NP_001273417.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 151,
"cds_start": 59,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286488.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000467317.5",
"protein_id": "ENSP00000420658.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 151,
"cds_start": 59,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467317.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000475942.5",
"protein_id": "ENSP00000418730.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 135,
"cds_start": 59,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475942.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_001286489.2",
"protein_id": "NP_001273418.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 117,
"cds_start": 59,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286489.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000481240.5",
"protein_id": "ENSP00000420172.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 117,
"cds_start": 59,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481240.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000877759.1",
"protein_id": "ENSP00000547818.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877759.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000877760.1",
"protein_id": "ENSP00000547819.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877760.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000932247.1",
"protein_id": "ENSP00000602306.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932247.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000932249.1",
"protein_id": "ENSP00000602308.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932249.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000932250.1",
"protein_id": "ENSP00000602309.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932250.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000932251.1",
"protein_id": "ENSP00000602310.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932251.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000932252.1",
"protein_id": "ENSP00000602311.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932252.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000932253.1",
"protein_id": "ENSP00000602312.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932253.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000932256.1",
"protein_id": "ENSP00000602315.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 114,
"cds_start": 59,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932256.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000461342.5",
"protein_id": "ENSP00000418334.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 101,
"cds_start": 59,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461342.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "NM_001127711.3",
"protein_id": "NP_001121183.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 80,
"cds_start": 59,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127711.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000379530.7",
"protein_id": "ENSP00000368845.3",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 80,
"cds_start": 59,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379530.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000932246.1",
"protein_id": "ENSP00000602305.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 80,
"cds_start": 59,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932246.1"
},
{
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286488.2",
"gene_symbol": "TMEM14B",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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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
}