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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: 7-29499961-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29499961&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29499961,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001293070.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Asp278Asp",
"transcript": "NM_004067.4",
"protein_id": "NP_004058.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 468,
"cds_start": 834,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222792.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004067.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Asp278Asp",
"transcript": "ENST00000222792.11",
"protein_id": "ENSP00000222792.7",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 468,
"cds_start": 834,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222792.11"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"transcript": "ENST00000409041.8",
"protein_id": "ENSP00000386849.5",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 260,
"cds_start": 426,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409041.8"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"transcript": "ENST00000439711.7",
"protein_id": "ENSP00000387425.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 197,
"cds_start": 426,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439711.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.331+3925C>T",
"hgvs_p": null,
"transcript": "ENST00000421775.6",
"protein_id": "ENSP00000394284.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": null,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421775.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.331+3925C>T",
"hgvs_p": null,
"transcript": "ENST00000424025.5",
"protein_id": "ENSP00000406337.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424025.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asp304Asp",
"transcript": "ENST00000706161.1",
"protein_id": "ENSP00000516239.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 494,
"cds_start": 912,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706161.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Asp291Asp",
"transcript": "NM_001293070.2",
"protein_id": "NP_001279999.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 481,
"cds_start": 873,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293070.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Asp291Asp",
"transcript": "ENST00000409350.6",
"protein_id": "ENSP00000386968.2",
"transcript_support_level": 4,
"aa_start": 291,
"aa_end": null,
"aa_length": 481,
"cds_start": 873,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409350.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Asp278Asp",
"transcript": "ENST00000886103.1",
"protein_id": "ENSP00000556162.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 468,
"cds_start": 834,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886103.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Asp278Asp",
"transcript": "ENST00000886105.1",
"protein_id": "ENSP00000556164.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 468,
"cds_start": 834,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886105.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Asp278Asp",
"transcript": "ENST00000886106.1",
"protein_id": "ENSP00000556165.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 463,
"cds_start": 834,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886106.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Asp265Asp",
"transcript": "ENST00000886104.1",
"protein_id": "ENSP00000556163.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 455,
"cds_start": 795,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886104.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.789C>T",
"hgvs_p": "p.Asp263Asp",
"transcript": "NM_001293072.2",
"protein_id": "NP_001280001.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 453,
"cds_start": 789,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293072.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.756C>T",
"hgvs_p": "p.Asp252Asp",
"transcript": "ENST00000446446.6",
"protein_id": "ENSP00000396867.2",
"transcript_support_level": 4,
"aa_start": 252,
"aa_end": null,
"aa_length": 442,
"cds_start": 756,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446446.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.729C>T",
"hgvs_p": "p.Asp243Asp",
"transcript": "NM_001293071.2",
"protein_id": "NP_001280000.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 433,
"cds_start": 729,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293071.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Asp240Asp",
"transcript": "ENST00000886107.1",
"protein_id": "ENSP00000556166.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 430,
"cds_start": 720,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886107.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Asp278Asp",
"transcript": "ENST00000943494.1",
"protein_id": "ENSP00000613553.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 422,
"cds_start": 834,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943494.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"transcript": "NM_001039936.3",
"protein_id": "NP_001035025.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 332,
"cds_start": 426,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039936.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"transcript": "ENST00000412711.7",
"protein_id": "ENSP00000486515.1",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 332,
"cds_start": 426,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412711.7"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Asp132Asp",
"transcript": "NM_001398427.1",
"protein_id": "NP_001385356.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 322,
"cds_start": 396,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398427.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Asp97Asp",
"transcript": "NM_001293073.2",
"protein_id": "NP_001280002.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 287,
"cds_start": 291,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293073.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.36,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6",
"BP7",
"BS2"
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"verdict": "Benign",
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"effects": [
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{
"score": -7,
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"BP6",
"BS2"
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"verdict": "Benign",
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],
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}
],
"clinvar_disease": "CHN2-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CHN2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}