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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: 22-30557308-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30557308&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30557308,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000406361.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318104.2",
"protein_id": "NP_001305033.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": "ENST00000406361.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "ENST00000406361.6",
"protein_id": "ENSP00000385207.1",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": "NM_001318104.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "ENST00000338911.6",
"protein_id": "ENSP00000343234.5",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "ENST00000401975.5",
"protein_id": "ENSP00000384388.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "ENST00000406955.5",
"protein_id": "ENSP00000385825.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 130,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "ENST00000452827.5",
"protein_id": "ENSP00000405017.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 241,
"cds_start": 85,
"cds_end": null,
"cds_length": 727,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "ENST00000443136.5",
"protein_id": "ENSP00000405381.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 142,
"cds_start": 85,
"cds_end": null,
"cds_length": 431,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "ENST00000453479.1",
"protein_id": "ENSP00000398380.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 99,
"cds_start": 85,
"cds_end": null,
"cds_length": 301,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318107.2",
"protein_id": "NP_001305036.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 424,
"cds_start": 85,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318114.2",
"protein_id": "NP_001305043.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 424,
"cds_start": 85,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 130,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318103.2",
"protein_id": "NP_001305032.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318105.2",
"protein_id": "NP_001305034.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318106.2",
"protein_id": "NP_001305035.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
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"cds_length": 1272,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318108.2",
"protein_id": "NP_001305037.1",
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"cdna_start": 384,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318109.2",
"protein_id": "NP_001305038.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
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"cdna_start": 158,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318110.2",
"protein_id": "NP_001305039.1",
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"mane_select": null,
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318111.2",
"protein_id": "NP_001305040.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
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"cdna_start": 171,
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"cdna_length": 1676,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318112.2",
"protein_id": "NP_001305041.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
"cds_end": null,
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"cdna_start": 130,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318113.2",
"protein_id": "NP_001305042.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
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"cdna_start": 240,
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"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318115.2",
"protein_id": "NP_001305044.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
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"cds_start": 85,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_001318116.2",
"protein_id": "NP_001305045.1",
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"cdna_start": 382,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "NM_004861.3",
"protein_id": "NP_004852.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 423,
"cds_start": 85,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.85G>T",
"hgvs_p": "p.Val29Leu",
"transcript": "ENST00000402321.5",
"protein_id": "ENSP00000385735.1",
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