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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: 2-171434662-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171434662&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171434662,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000375255.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "NM_025000.4",
"protein_id": "NP_079276.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 520,
"cds_start": 85,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 5853,
"mane_select": "ENST00000375255.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "ENST00000375255.8",
"protein_id": "ENSP00000364404.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 520,
"cds_start": 85,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 5853,
"mane_select": "NM_025000.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "NM_001164821.2",
"protein_id": "NP_001158293.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 453,
"cds_start": 85,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 5652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "ENST00000539783.5",
"protein_id": "ENSP00000442238.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 453,
"cds_start": 85,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 5623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "XM_011511881.2",
"protein_id": "XP_011510183.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 509,
"cds_start": 85,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 5820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "XM_011511882.2",
"protein_id": "XP_011510184.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 499,
"cds_start": 85,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 5790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "XM_047445911.1",
"protein_id": "XP_047301867.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 442,
"cds_start": 85,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 5619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "XM_047445912.1",
"protein_id": "XP_047301868.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 432,
"cds_start": 85,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "XM_017004996.2",
"protein_id": "XP_016860485.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 372,
"cds_start": 85,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "XM_017004999.2",
"protein_id": "XP_016860488.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 286,
"cds_start": 85,
"cds_end": null,
"cds_length": 861,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "XM_017005001.3",
"protein_id": "XP_016860490.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 286,
"cds_start": 85,
"cds_end": null,
"cds_length": 861,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.85C>A",
"hgvs_p": "p.Gln29Lys",
"transcript": "XM_047445913.1",
"protein_id": "XP_047301869.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 286,
"cds_start": 85,
"cds_end": null,
"cds_length": 861,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.6C>A",
"hgvs_p": null,
"transcript": "ENST00000495925.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.437C>A",
"hgvs_p": null,
"transcript": "NR_028482.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.437C>A",
"hgvs_p": null,
"transcript": "XR_007082530.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL8",
"gene_hgnc_id": 25856,
"hgvs_c": "c.8+12G>T",
"hgvs_p": null,
"transcript": "NM_001321157.2",
"protein_id": "NP_001308086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL8",
"gene_hgnc_id": 25856,
"hgvs_c": "c.-13+12G>T",
"hgvs_p": null,
"transcript": "NM_024770.5",
"protein_id": "NP_079046.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL8",
"gene_hgnc_id": 25856,
"hgvs_c": "c.-13+12G>T",
"hgvs_p": null,
"transcript": "ENST00000612742.5",
"protein_id": "ENSP00000480056.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL8",
"gene_hgnc_id": 25856,
"hgvs_c": "c.8+12G>T",
"hgvs_p": null,
"transcript": "NM_001321158.2",
"protein_id": "NP_001308087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cds_length": 1089,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL8",
"gene_hgnc_id": 25856,
"hgvs_c": "c.8+12G>T",
"hgvs_p": null,
"transcript": "NM_001321161.2",
"protein_id": "NP_001308090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 9499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL8",
"gene_hgnc_id": 25856,
"hgvs_c": "c.-13+12G>T",
"hgvs_p": null,
"transcript": "ENST00000442778.5",
"protein_id": "ENSP00000404646.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
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"cds_length": 459,
"cdna_start": null,
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"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL8",
"gene_hgnc_id": 25856,
"hgvs_c": "c.-137+12G>T",
"hgvs_p": null,
"transcript": "ENST00000453846.5",
"protein_id": "ENSP00000411589.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": -4,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL8",
"gene_hgnc_id": 25856,
"hgvs_c": "n.115+12G>T",
"hgvs_p": null,
"transcript": "ENST00000460188.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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}
],
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}