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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: 6-151808141-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=151808141&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 151808141,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000125.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_000125.4",
"protein_id": "NP_000116.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 595,
"cds_start": 229,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": "ENST00000206249.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "ENST00000206249.8",
"protein_id": "ENSP00000206249.3",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 595,
"cds_start": 229,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": "NM_000125.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "ENST00000406599.5",
"protein_id": "ENSP00000384064.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 334,
"cds_start": 229,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "ENST00000456483.3",
"protein_id": "ENSP00000415934.3",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 152,
"cds_start": 229,
"cds_end": null,
"cds_length": 459,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "ENST00000446550.1",
"protein_id": "ENSP00000411105.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 114,
"cds_start": 229,
"cds_end": null,
"cds_length": 347,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "ENST00000404742.5",
"protein_id": "ENSP00000385373.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 83,
"cds_start": 229,
"cds_end": null,
"cds_length": 254,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_001291230.2",
"protein_id": "NP_001278159.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 597,
"cds_start": 229,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 6288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_001122740.2",
"protein_id": "NP_001116212.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 595,
"cds_start": 229,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 6480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_001122741.2",
"protein_id": "NP_001116213.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 595,
"cds_start": 229,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 6282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_001122742.2",
"protein_id": "NP_001116214.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 595,
"cds_start": 229,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 6435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_001385568.1",
"protein_id": "NP_001372497.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 595,
"cds_start": 229,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 6389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_001385569.1",
"protein_id": "NP_001372498.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 595,
"cds_start": 229,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 6475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "ENST00000338799.9",
"protein_id": "ENSP00000342630.5",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 595,
"cds_start": 229,
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"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "ENST00000440973.5",
"protein_id": "ENSP00000405330.1",
"transcript_support_level": 5,
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"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "ENST00000443427.5",
"protein_id": "ENSP00000387500.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 595,
"cds_start": 229,
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"cdna_start": 490,
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"cdna_length": 6357,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_001291241.2",
"protein_id": "NP_001278170.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_001385570.1",
"protein_id": "NP_001372499.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 466,
"cds_start": 229,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_001385571.1",
"protein_id": "NP_001372500.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 466,
"cds_start": 229,
"cds_end": null,
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"cdna_start": 608,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "NM_001385572.1",
"protein_id": "NP_001372501.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "XM_011535543.3",
"protein_id": "XP_011533845.1",
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"aa_start": 77,
"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "XM_011535545.3",
"protein_id": "XP_011533847.1",
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"cdna_start": 497,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "XM_017010377.2",
"protein_id": "XP_016865866.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 595,
"cds_start": 229,
"cds_end": null,
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"cdna_start": 581,
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"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Ser",
"transcript": "XM_017010378.2",
"protein_id": "XP_016865867.1",
"transcript_support_level": null,
"aa_start": 77,
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}
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}