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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: 3-46863355-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=46863355&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 46863355,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000258.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "NM_000258.3",
"protein_id": "NP_000249.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292327.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000258.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000292327.6",
"protein_id": "ENSP00000292327.4",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000258.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292327.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000395869.5",
"protein_id": "ENSP00000379210.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395869.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000713934.1",
"protein_id": "ENSP00000519231.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 239,
"cds_start": 36,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713934.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000957831.1",
"protein_id": "ENSP00000627890.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 239,
"cds_start": 36,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957831.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000957844.1",
"protein_id": "ENSP00000627903.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 239,
"cds_start": 36,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957844.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000957846.1",
"protein_id": "ENSP00000627905.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 209,
"cds_start": 36,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957846.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000877138.1",
"protein_id": "ENSP00000547197.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 205,
"cds_start": 36,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877138.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "NM_001406937.1",
"protein_id": "NP_001393866.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406937.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "NM_001406938.1",
"protein_id": "NP_001393867.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406938.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "NM_001406939.1",
"protein_id": "NP_001393868.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406939.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000431168.2",
"protein_id": "ENSP00000393455.2",
"transcript_support_level": 5,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431168.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000653454.1",
"protein_id": "ENSP00000499624.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000653454.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000654597.1",
"protein_id": "ENSP00000499406.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000654597.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000662933.1",
"protein_id": "ENSP00000499577.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000662933.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000713933.1",
"protein_id": "ENSP00000519230.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713933.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000877119.1",
"protein_id": "ENSP00000547178.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877119.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000877120.1",
"protein_id": "ENSP00000547179.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877120.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000877121.1",
"protein_id": "ENSP00000547180.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877121.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000877122.1",
"protein_id": "ENSP00000547181.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877122.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000877123.1",
"protein_id": "ENSP00000547182.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877123.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.36T>C",
"hgvs_p": "p.Asp12Asp",
"transcript": "ENST00000877124.1",
"protein_id": "ENSP00000547183.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 195,
"cds_start": 36,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877124.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
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],
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"dbsnp": "rs138567316",
"frequency_reference_population": 0.000078696925,
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"gnomad_exomes_af": 0.0000821029,
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"gnomad_genomes_ac": 7,
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"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.111,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"mitotip_score": null,
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"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000258.3",
"gene_symbol": "MYL3",
"hgnc_id": 7584,
"effects": [
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],
"inheritance_mode": "AD,SD",
"hgvs_c": "c.36T>C",
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}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,MYL3-related disorder,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:7",
"phenotype_combined": "Cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|MYL3-related disorder|not provided|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}