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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: 7-122093106-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=122093106&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 122093106,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000417368.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.1708A>G",
"hgvs_p": "p.Lys570Glu",
"transcript": "NM_005763.4",
"protein_id": "NP_005754.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 926,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 5825,
"mane_select": "ENST00000417368.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.1708A>G",
"hgvs_p": "p.Lys570Glu",
"transcript": "ENST00000417368.7",
"protein_id": "ENSP00000403768.2",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 926,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 5825,
"mane_select": "NM_005763.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.1708A>G",
"hgvs_p": "p.Lys570Glu",
"transcript": "ENST00000393376.5",
"protein_id": "ENSP00000377040.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 926,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.1708A>G",
"hgvs_p": null,
"transcript": "ENST00000358954.6",
"protein_id": "ENSP00000351834.2",
"transcript_support_level": 1,
"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": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.*168A>G",
"hgvs_p": null,
"transcript": "ENST00000431170.5",
"protein_id": "ENSP00000414001.1",
"transcript_support_level": 1,
"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": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.*168A>G",
"hgvs_p": null,
"transcript": "ENST00000431170.5",
"protein_id": "ENSP00000414001.1",
"transcript_support_level": 1,
"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": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.1708A>G",
"hgvs_p": "p.Lys570Glu",
"transcript": "ENST00000679511.1",
"protein_id": "ENSP00000505381.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 926,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 5774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Lys58Glu",
"transcript": "ENST00000473553.5",
"protein_id": "ENSP00000506240.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 414,
"cds_start": 172,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Lys58Glu",
"transcript": "ENST00000679419.1",
"protein_id": "ENSP00000505825.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 414,
"cds_start": 172,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Lys58Glu",
"transcript": "ENST00000681213.1",
"protein_id": "ENSP00000505849.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 414,
"cds_start": 172,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.1708A>G",
"hgvs_p": "p.Lys570Glu",
"transcript": "XM_011515725.3",
"protein_id": "XP_011514027.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 894,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.1708A>G",
"hgvs_p": "p.Lys570Glu",
"transcript": "XM_047419710.1",
"protein_id": "XP_047275666.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 800,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.*230A>G",
"hgvs_p": null,
"transcript": "ENST00000679579.1",
"protein_id": "ENSP00000505506.1",
"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": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.4A>G",
"hgvs_p": null,
"transcript": "ENST00000679659.1",
"protein_id": "ENSP00000506341.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4168,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.181A>G",
"hgvs_p": null,
"transcript": "ENST00000679721.1",
"protein_id": "ENSP00000504919.1",
"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": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.280A>G",
"hgvs_p": null,
"transcript": "ENST00000679764.1",
"protein_id": "ENSP00000505102.1",
"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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"cdna_length": 4213,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.466A>G",
"hgvs_p": null,
"transcript": "ENST00000679818.1",
"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,
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"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.*230A>G",
"hgvs_p": null,
"transcript": "ENST00000679847.1",
"protein_id": "ENSP00000505881.1",
"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": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.1708A>G",
"hgvs_p": null,
"transcript": "ENST00000679864.1",
"protein_id": "ENSP00000505958.1",
"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,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.280A>G",
"hgvs_p": null,
"transcript": "ENST00000680080.1",
"protein_id": "ENSP00000506554.1",
"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,
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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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.*230A>G",
"hgvs_p": null,
"transcript": "ENST00000681314.1",
"protein_id": "ENSP00000504967.1",
"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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"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.280A>G",
"hgvs_p": null,
"transcript": "ENST00000681318.1",
"protein_id": "ENSP00000505352.1",
"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": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.172A>G",
"hgvs_p": null,
"transcript": "ENST00000681387.1",
"protein_id": "ENSP00000506684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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{
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"phenotype_combined": "not provided|AASS-related disorder",
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}
],
"message": null
}